Home / Deep Research / COL11A2-Related Skeletal Spectrum

COL11A2-Related Skeletal Spectrum

1. Disease Information

2026-05-08
Falcon MONDO:0008490 Model: Edison Scientific Literature 46 citations

1. Disease Information

1.1 Definition and overview

COL11A2-related skeletal spectrum comprises heritable type XI collagenopathies caused by pathogenic variants in COL11A2 (collagen type XI alpha 2 chain), typically presenting with combinations of skeletal dysplasia/arthropathy, craniofacial anomalies (often cleft palate/micrognathia), and sensorineural hearing loss, with minimal/absent ocular involvement as a key differentiator from other Stickler syndromes because COL11A2 is not expressed in the vitreous. (soh2022dominantsticklersyndrome. pages 8-10, sheppard2021sticklersyndrome pages 3-4, melkoniemi2000autosomalrecessivedisorder pages 1-2)

1.2 Key identifiers (available in retrieved sources)

  • Stickler syndrome (broad): MONDO_0019354 (Open Targets mapping). (OpenTargets Search: Stickler syndrome,otospondylomegaepiphyseal dysplasia-COL11A2)
  • Stickler syndrome type 3 (non-ocular Stickler; COL11A2): cited as OMIM/MIM 184840 in Stickler reviews. (soh2022dominantsticklersyndrome. pages 1-2)
  • Autosomal recessive OSMED: OMIM/MIM 215150. (melkoniemi2000autosomalrecessivedisorder pages 1-2)

Note: Orphanet / ICD / MeSH identifiers were not directly retrievable from the currently available full-text evidence in this run; the above identifiers come from primary/review literature and Open Targets mapping. (OpenTargets Search: Stickler syndrome,otospondylomegaepiphyseal dysplasia-COL11A2, soh2022dominantsticklersyndrome. pages 1-2, melkoniemi2000autosomalrecessivedisorder pages 1-2)

1.3 Synonyms and alternative names

  • Stickler syndrome type 3 = non-ocular Stickler syndrome and is also termed autosomal dominant otospondylomegaepiphyseal dysplasia (OSMED) in major reviews. (soh2022dominantsticklersyndrome. pages 1-2, soh2022dominantsticklersyndrome. pages 8-10)
  • Autosomal recessive OSMED has historical synonyms (as used in case series/reviews) including Weissenbacher–Zweymüller syndrome, Nance–Insley syndrome, Nance–Sweeney chondrodysplasia, and chondrodystrophy with sensorineural deafness. (selvam2020novelcol11a2pathogenic pages 1-2)

1.4 Evidence source type

The information summarized here is derived from aggregated disease-level resources (reviews, case series) and individual patient reports/case series with genetic confirmation; it is not derived from EHR-only sources in the retrieved evidence. (soh2022dominantsticklersyndrome. pages 8-10, melkoniemi2000autosomalrecessivedisorder pages 4-6, su2023casereportautosomal pages 1-2)

2. Etiology

2.1 Disease causal factors

Primary cause: germline pathogenic variants in COL11A2. - Autosomal recessive OSMED is strongly associated with loss-of-function (LoF) mechanisms: in a foundational AJHG cohort, 10 distinct COL11A2 mutations were identified across 7 families; nine created premature termination codons and one altered a splicing consensus sequence, with homozygous or compound heterozygous inheritance. (melkoniemi2000autosomalrecessivedisorder pages 6-9) - Autosomal dominant non-ocular Stickler/OSMED is commonly conceptualized as a dominant-negative collagen mechanism (e.g., missense or in-frame exon-skipping/in-frame deletions in the triple helical region), leading to dysfunctional heterotrimers. (soh2022dominantsticklersyndrome. pages 8-10)

Abstract support (example): In a diagnostic-methods paper on COL11A2 splicing, the abstract states: “Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in COL11A1 and COL11A2, respectively.” (Genes, 2020-12; https://doi.org/10.3390/genes11121513) (micale2020exontrappingassayimproves pages 1-3)

2.2 Risk factors

  • Genetic: biallelic COL11A2 pathogenic variants confer risk for autosomal recessive OSMED, with typical Mendelian recurrence risk (~25% for siblings) in affected families. (melkoniemi2000autosomalrecessivedisorder pages 6-9)
  • Environmental/lifestyle: No disease-specific environmental risk factors or protective factors were identified in the retrieved evidence; phenotype is primarily genetically determined. (melkoniemi2000autosomalrecessivedisorder pages 1-2, soh2022dominantsticklersyndrome. pages 8-10)

2.3 Protective factors / gene–environment interactions

No validated protective factors or gene–environment interactions specific to COL11A2-related skeletal spectrum were identified in the retrieved sources. (melkoniemi2000autosomalrecessivedisorder pages 1-2, soh2022dominantsticklersyndrome. pages 8-10)

3. Phenotypes (clinical spectrum)

3.1 Core phenotype domains

A. Skeletal / growth / joint disease - Autosomal recessive OSMED is described as a skeletal dysplasia with disproportionately short limbs, enlarged epiphyses, vertebral anomalies, and early joint disease. (melkoniemi2000autosomalrecessivedisorder pages 1-2, melkoniemi2000autosomalrecessivedisorder pages 6-9) - Quantitative phenotype frequencies in one foundational cohort: 10/10 with disproportionate short limbs, enlarged joints, vertebral body anomalies, and cleft palate/bifid uvula; additional findings include small chin in 7/10. (melkoniemi2000autosomalrecessivedisorder pages 4-6) - Dominant non-ocular Stickler/OSMED includes arthropathy and predisposition to premature osteoarthritis, mechanistically linked to abnormal cartilage collagen organization. (soh2022dominantsticklersyndrome. pages 8-10, soh2022dominantsticklersyndrome. pages 1-2)

B. Craniofacial / orofacial - Features repeatedly described include midface hypoplasia, depressed nasal bridge, micrognathia/small chin, and cleft palate/bifid uvula (particularly prominent in recessive OSMED). (melkoniemi2000autosomalrecessivedisorder pages 4-6, selvam2020novelcol11a2pathogenic pages 1-2, melkoniemi2000autosomalrecessivedisorder pages 6-9)

C. Hearing - Hearing loss is a hallmark. In a dominant non-ocular Stickler/OSMED review excerpt, hearing loss is reported as childhood-onset and present in 94.1% of patients. (soh2022dominantsticklersyndrome. pages 8-10) - In a recessive OSMED cohort, sensorineural hearing loss (SNHL) occurred in 10/10. (melkoniemi2000autosomalrecessivedisorder pages 4-6) - A focused Stickler hearing review (Genes, 2022-09; https://doi.org/10.3390/genes13091571) summarizes that for COL11A2 (type 3) hearing loss is typically moderate with audiograms often showing mild–moderate loss at low/mid frequencies and moderate–severe loss at high frequencies; U-shaped audiograms are reported in some patients. (acke2022hearinglossin pages 2-4)

D. Ocular - Minimal/absent ocular involvement is a key discriminator for COL11A2-related disease, consistent with COL11A2 not being expressed in vitreous. (sheppard2021sticklersyndrome pages 3-4, soh2022dominantsticklersyndrome. pages 8-10) - Recessive OSMED cohorts largely lack major ocular findings; the Selvam review table notes 0/10 with ocular findings in the summarized cohort, with only minor refractive/strabismus findings sporadically reported. (selvam2020novelcol11a2pathogenic pages 3-4, selvam2020novelcol11a2pathogenic media b73d0cc6)

3.2 Onset, severity, progression

3.3 Suggested HPO terms (non-exhaustive)

(terms suggested based on described clinical features in evidence) - Sensorineural hearing impairment (HP:0000407) (melkoniemi2000autosomalrecessivedisorder pages 4-6, acke2022hearinglossin pages 2-4) - Cleft palate (HP:0000175) / bifid uvula (HP:0000193) (melkoniemi2000autosomalrecessivedisorder pages 4-6) - Midface hypoplasia (HP:0000309) (melkoniemi2000autosomalrecessivedisorder pages 4-6, melkoniemi2000autosomalrecessivedisorder pages 6-9) - Depressed nasal bridge (HP:0005280) (selvam2020novelcol11a2pathogenic pages 1-2) - Micrognathia (HP:0000347) / small chin (HP:0000308) (melkoniemi2000autosomalrecessivedisorder pages 4-6) - Disproportionate short stature (HP:0003498) / short limbs (HP:0009826) (melkoniemi2000autosomalrecessivedisorder pages 4-6) - Platyspondyly (HP:0000926) / vertebral segmentation anomalies (HP:0003312) (melkoniemi2000autosomalrecessivedisorder pages 6-9, su2023casereportautosomal pages 1-2) - Enlarged epiphyses / epiphyseal dysplasia (HP:0002654) (melkoniemi2000autosomalrecessivedisorder pages 6-9, su2023casereportautosomal pages 1-2) - Early-onset osteoarthritis (HP:0002758) / arthropathy (HP:0001367) (soh2022dominantsticklersyndrome. pages 8-10, su2023casereportautosomal pages 1-2)

3.4 Quality-of-life impact

Direct validated QoL instrument results (EQ-5D/SF-36/PROMIS) were not found in the retrieved evidence; however, the combination of SNHL, cleft palate-related feeding/speech issues, and early arthropathy implies substantial functional impact and need for multidisciplinary support. (sheppard2021sticklersyndrome pages 7-8, soh2022dominantsticklersyndrome. pages 8-10)

4. Genetic / Molecular Information

4.1 Causal gene

4.2 Variant types and functional consequences

Autosomal recessive OSMED (LoF-enriched): - In the AJHG cohort, 10 distinct mutations were identified; most predicted premature truncation, and RNA studies showed splicing defects (e.g., exon skipping or cryptic splice use causing frameshift and premature stop), leading authors to predict absence or truncation of the α2(XI) chain. (melkoniemi2000autosomalrecessivedisorder pages 6-9, melkoniemi2000autosomalrecessivedisorder pages 2-4)

Splice-region variants and in-frame deletions: - Exon-trapping (minigene) assays can demonstrate splicing outcomes for COL11A2 intronic variants; for example, c.4392+1G>A was shown to cause skipping of 54 bp of exon 60. (Genes, 2020-12; https://doi.org/10.3390/genes11121513) (micale2020exontrappingassayimproves pages 11-13)

Dominant-negative concept for COL11A2 Stickler type 3: - A dominant Stickler review excerpt explains that COL11A2 variants often act via dominant negative effects (missense or in-frame exon skipping/in-frame deletions) affecting the helical domain and disrupting heterotrimer formation. (soh2022dominantsticklersyndrome. pages 8-10)

4.3 Genotype–phenotype correlations (current evidence limits)

4.4 Population genetics / allele frequency

  • In a 2023 congenital scoliosis study, authors reported gnomAD pLI = 0.7 for COL11A2, consistent with constraint considerations for interpreting variants. (rebello2023col11a2asa pages 2-4)

4.5 Modifier genes / epigenetics

No validated modifier genes or disease-specific epigenetic signatures were identified in the retrieved evidence for COL11A2-related skeletal spectrum.

5. Environmental Information

No disease-specific environmental, lifestyle, or infectious contributors were identified in the retrieved sources; COL11A2-related skeletal spectrum is primarily Mendelian/genetic in etiology. (melkoniemi2000autosomalrecessivedisorder pages 1-2)

6. Mechanism / Pathophysiology

6.1 Current mechanistic understanding (collagen XI biology)

  • Type XI collagen is a heterotrimeric collagen important for fibrillogenesis and regulation of collagen fibril structure; in recessive OSMED, LoF variants likely reduce/abolish α2(XI), disrupting cartilage and ear matrix structure. (melkoniemi2000autosomalrecessivedisorder pages 1-2, melkoniemi2000autosomalrecessivedisorder pages 6-9)
  • In dominant non-ocular Stickler/OSMED, a review excerpt links abnormal type XI collagen to downstream cartilage pathology: disorganized collagen patterns, decreased joint space, articular cartilage degradation and predisposition to early osteoarthritis. (soh2022dominantsticklersyndrome. pages 8-10)

6.2 Hearing-loss mechanism

COL11A2 is expressed in inner-ear structures (including the tectorial membrane); pathogenic variants are linked to abnormal collagen distribution in this extracellular matrix, consistent with sensorineural hearing loss. (soh2022dominantsticklersyndrome. pages 8-10, li2001targeteddisruptionof pages 3-4)

6.3 Recent mechanistic/functional advances (2023)

A 2023 study used CRISPR loss-of-function zebrafish models and transgenic rescue to support pathogenicity of human missense variants: - Homozygous zebrafish col11a2 LOF alleles produce vertebral fusions; heterozygous deletion alleles also increase fusion penetrance (haploinsufficiency). (rebello2023col11a2asa pages 4-6) - Wildtype col11a2 transgenes suppress vertebral fusions, but patient missense-variant transgenes fail to rescue, providing functional support for variant pathogenicity and linking COL11A2 to vertebral development/mineralization boundary maintenance. (rebello2023col11a2asa pages 1-2, rebello2023col11a2asa pages 8-11)

6.4 Suggested ontology mappings

GO Biological Process (suggested): - extracellular matrix organization (GO:0030198) - collagen fibril organization (GO:0030199) - cartilage development (GO:0051216) - skeletal system development (GO:0001501) - auditory receptor cell development / inner ear development (e.g., inner ear morphogenesis GO:0048839)

Cell Ontology (CL) (suggested): - chondrocyte (CL:0000138) (growth plate/articular cartilage involvement) (li2001targeteddisruptionof pages 6-8) - osteoblast (CL:0000062) (vertebral mineralization context in zebrafish) (rebello2023col11a2asa pages 8-11) - cochlear hair cell (CL:0000601) / supporting cells (for SNHL context; indirect) (acke2022hearinglossin pages 6-7)

7. Anatomical Structures Affected

7.1 Organ/system level

7.2 UBERON suggestions

8. Temporal Development

9. Inheritance and Population

9.1 Inheritance

9.2 Epidemiology

  • Stickler syndrome overall incidence is cited as about 1 in 7,500–9,000 newborns in a dominant Stickler review excerpt; this estimate is not specific to COL11A2 subtypes. (soh2022dominantsticklersyndrome. pages 1-2)
  • Recessive COL11A2 Stickler type 3 is described as “ultra-rare” in a 2023 case report excerpt; no robust prevalence/incidence estimates were available from retrieved sources. (su2023casereportautosomal pages 1-2)

10. Diagnostics

10.1 Clinical and imaging evaluation

  • Radiographs are central for OSMED characterization (epiphyseal/metaphyseal/spinal changes); in a Selvam summary table, radiographic abnormalities were documented in 6/10 with missing detail for 4/10. (selvam2020novelcol11a2pathogenic pages 3-4, selvam2020novelcol11a2pathogenic media b73d0cc6)
  • CT of temporal bones typically does not show anomalies in Stickler hearing loss; thus SNHL may be “functional/microstructural” rather than grossly anatomic. (acke2022hearinglossin pages 4-6)

10.2 Genetic testing approaches (real-world implementation)

Skeletal dysplasia workflows (generalizable to COL11A2): - A radiogenomics-era skeletal dysplasia cohort implemented tiered analysis: clinician-directed gene(s) on WES data → 222-gene virtual panel → HPO-driven agnostic exome search, emphasizing multidisciplinary radiology–genetics review; overall diagnostic yield was 53.3% (8/15) with 46.7% definite and 6.7% likely diagnoses. (BMC Med Genomics, 2021-06; https://doi.org/10.1186/s12920-021-00993-0) (sabir2021diagnosticyieldof pages 2-4) - Re-analysis of WES can yield additional diagnoses (~10–15% uplift in prior-negative cases), and WGS is increasingly used (especially trio WGS). (sabir2021diagnosticyieldof pages 9-12)

COL11A2 splice-region variant interpretation (functional validation): - For intronic/splice variants, minigene/exon-trapping assays are presented as a practical method when patient RNA is unavailable; this can materially affect ACMG/AMP classification (e.g., evidence of exon skipping/in-frame deletions). (Genes, 2020-12; https://doi.org/10.3390/genes11121513) (micale2020exontrappingassayimproves pages 11-13, micale2020exontrappingassayimproves pages 3-5)

2023 update relevant to diagnostics: - A 2023 congenital scoliosis/vertebral malformation study suggests including COL11A2 in gene lists/panels for vertebral malformations, supported by functional zebrafish rescue assays and noting incomplete penetrance in at least one family. (Human Molecular Genetics, 2023-07; https://doi.org/10.1093/hmg/ddad117) (rebello2023col11a2asa pages 2-4)

10.3 Differential diagnosis (conceptual)

  • Other collagenopathies with overlapping skeletal and hearing features include COL2A1/COL11A1 Stickler/Marshall phenotypes; ocular involvement and vitreous phenotype help distinguish non-ocular COL11A2 disease. (soh2022dominantsticklersyndrome. pages 1-2, melkoniemi2000autosomalrecessivedisorder pages 1-2)

11. Outcomes / Prognosis

Quantitative survival/mortality estimates were not found in the retrieved evidence. Available sources emphasize chronic morbidity from: - Hearing impairment (risk of speech/language impact without early intervention) (sheppard2021sticklersyndrome pages 7-8) - Musculoskeletal degeneration/pain and early osteoarthritis (soh2022dominantsticklersyndrome. pages 8-10, su2023casereportautosomal pages 1-2)

12. Treatment

No disease-modifying pharmacotherapy or gene therapy was identified in the retrieved sources.

12.1 Supportive and rehabilitative care (current practice)

Hearing and ENT management (Stickler/OSMED-relevant): - Management guidance emphasizes early otolaryngology and audiology evaluation (e.g., within 3–6 months for infants with cleft palate), repeated audiometry, and prompt treatment of otitis media with antibiotics; recurrent cases managed with ventilation tubes as indicated. (sheppard2021sticklersyndrome pages 7-8) - Hearing interventions: hearing aids/vibrotactile devices for milder losses, and cochlear implants may be considered for children >12 months with severe-to-profound deafness. (sheppard2021sticklersyndrome pages 7-8) - Given newborn screening may miss mild losses and childhood onset/progression can occur, ongoing surveillance beyond newborn screening is emphasized in hearing-focused reviews. (acke2022hearinglossin pages 4-6)

Cleft palate / craniofacial interventions: - Cleft palate surgery timing is individualized; one management source cites typical repair around 12–18 months, with near-universal need for speech therapy in cleft-affected children. (sheppard2021sticklersyndrome pages 8-9) - In recessive OSMED case management, specific interventions reported include palatoplasty and mandibular distraction in an affected child. (selvam2020novelcol11a2pathogenic pages 1-2)

Musculoskeletal management: - Evidence in retrieved sources supports risk of early arthropathy/osteoarthritis, implying orthopedic monitoring and symptomatic treatment; however, specific evidence-based algorithms for COL11A2 were not identified in retrieved sources. (soh2022dominantsticklersyndrome. pages 8-10)

12.2 MAXO term suggestions

12.3 Clinical trials

No interventional clinical trials specific to COL11A2/OSMED/Stickler type 3 were identified in the retrieved ClinicalTrials.gov search results in this run (the returned trials were unrelated dental/implant studies). (clinical trial search output; not citeable as evidence)

13. Prevention

Primary prevention is not applicable in the classic sense for a Mendelian disorder; prevention focuses on genetic counseling and reproductive options. - Genetic diagnosis supports cascade testing, recurrence-risk counseling, and consideration of prenatal or preimplantation genetic testing. (melkoniemi2000autosomalrecessivedisorder pages 6-9, gyokova2026prenatalmoleculardiagnosis pages 6-7) - Secondary/tertiary prevention includes early identification and management of hearing loss and middle-ear disease to reduce developmental impact, and proactive cleft feeding/speech interventions. (sheppard2021sticklersyndrome pages 7-8, sheppard2021sticklersyndrome pages 6-7)

14. Other species / natural disease

No naturally occurring COL11A2-driven veterinary disease was identified in the retrieved evidence (a 2023 canine Stickler-like condition involved COL11A1, not COL11A2). (OpenTargets Search: Stickler syndrome,otospondylomegaepiphyseal dysplasia-COL11A2)

15. Model organisms

15.1 Mouse model

A Col11a2 targeted-disruption mouse model shows phenotypes consistent with COL11A2-related disease mechanisms: - Homozygotes lack intact α2(XI) chains and show reduced size, craniofacial changes, disorganized growth-plate chondrocytes, thinner articular cartilage, and hearing impairment (ABR-confirmed), with tectorial membrane collagen fibril disorganization cited as a mechanism. (Dev Dyn, 2001-10; https://doi.org/10.1002/dvdy.1178) (li2001targeteddisruptionof pages 3-4, li2001targeteddisruptionof pages 6-8)

15.2 Zebrafish model (recent functional platform)

Key recent developments (prioritizing 2023–2024)

  1. Expansion of phenotype toward vertebral malformations/congenital scoliosis: human missense variants + zebrafish functional rescue/LOF data provide a mechanistic and diagnostic rationale to include COL11A2 in congenital scoliosis/vertebral malformation gene lists (Human Molecular Genetics, 2023-07-01; https://doi.org/10.1093/hmg/ddad117). (rebello2023col11a2asa pages 2-4)
  2. Continued recognition of autosomal recessive COL11A2 Stickler type 3: a 2023 case report frames COL11A2-associated type 3 Stickler as ultra-rare and highlights diagnostic challenges and the importance of comprehensive sequencing for overlooked variants. (Frontiers in Genetics, 2023-06; https://doi.org/10.3389/fgene.2023.1154087) (su2023casereportautosomal pages 1-2)

Data and statistics (selected)

  • Recessive OSMED clinical feature frequencies (foundational cohort): disproportionate short limbs 10/10; enlarged joints 10/10; vertebral anomalies 10/10; cleft palate/bifid uvula 10/10; midface hypoplasia 10/10; SNHL 10/10; small chin 7/10. (melkoniemi2000autosomalrecessivedisorder pages 4-6)
  • Stickler type 3 hearing: hearing loss prevalence 94.1% in one review excerpt; and 69–83% when STL2/STL3 grouped, typically moderate with characteristic audiogram shapes. (soh2022dominantsticklersyndrome. pages 8-10, acke2022hearinglossin pages 2-4)
  • Skeletal dysplasia WES diagnostic yield in one radiogenomics cohort: 53.3% (8/15) total; 46.7% (7/15) definite; 6.7% (1/15) likely; yield higher when diagnosis suspected pre-test (7/10 vs 1/5). (sabir2021diagnosticyieldof pages 2-4, sabir2021diagnosticyieldof pages 1-2)

Figure/Table evidence note

A curated table of autosomal recessive OSMED features and frequencies is available in Selvam et al. (2020), including 10/10 SNHL and 0/10 ocular findings in the summarized cohort. (selvam2020novelcol11a2pathogenic media b73d0cc6)

Expert opinion / authoritative synthesis (from reviews and clinical management texts)

  • COL11A2-related Stickler type 3 is framed as a non-ocular collagenopathy because COL11A2 is not expressed in vitreous; thus vitreous/ocular phenotype-based classification can help direct gene testing and counseling. (sheppard2021sticklersyndrome pages 3-4, soh2022dominantsticklersyndrome. pages 1-2)
  • Hearing loss should be actively sought and treated due to high prevalence and potential early-life developmental impact; cleft palate and middle-ear disease necessitate proactive ENT pathways (e.g., early otolaryngology evaluation, audiometry, ventilation tubes). (sheppard2021sticklersyndrome pages 7-8, acke2022hearinglossin pages 2-4)

Primary literature and key URLs (retrieved in this run)

Evidence gaps (explicit)

  • Orphanet/ICD/MeSH identifiers, robust prevalence/incidence estimates for COL11A2-specific subtypes, and standardized COL11A2-specific management guidelines were not available in the retrieved full texts for this run.
  • Multi-omics profiling (transcriptomics/proteomics/metabolomics) specific to COL11A2-OSMED/Stickler type 3 was not identified in retrieved sources.

References

  1. (soh2022dominantsticklersyndrome. pages 8-10): Zack Soh, Allan J Richards, Annie McNinch, Philip Alexander, Howard Martin, and Martin P Snead. Dominant stickler syndrome. JournalArticle, Jul 2022. URL: https://doi.org/10.17863/cam.86865, doi:10.17863/cam.86865. This article has 46 citations.

  2. (selvam2020novelcol11a2pathogenic pages 1-2): Pavalan Selvam, Shekhar Singh, Angita Jain, Herjot Atwal, and Paldeep S. Atwal. Novel col11a2 pathogenic variants in a child with autosomal recessive otospondylomegaepiphyseal dysplasia: a review of the literature. Journal of Pediatric Genetics, 09:117-120, Oct 2020. URL: https://doi.org/10.1055/s-0039-1698446, doi:10.1055/s-0039-1698446. This article has 4 citations and is from a peer-reviewed journal.

  3. (su2023casereportautosomal pages 1-2): Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, and Wen-Tao He. Case report: autosomal recessive type 3 stickler syndrome caused by compound heterozygous mutations in col11a2. Frontiers in Genetics, Jun 2023. URL: https://doi.org/10.3389/fgene.2023.1154087, doi:10.3389/fgene.2023.1154087. This article has 4 citations and is from a peer-reviewed journal.

  4. (rebello2023col11a2asa pages 2-4): Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, and Brian Ciruna. Col11a2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics, 32:2913-2928, Jul 2023. URL: https://doi.org/10.1093/hmg/ddad117, doi:10.1093/hmg/ddad117. This article has 19 citations and is from a domain leading peer-reviewed journal.

  5. (OpenTargets Search: Stickler syndrome,otospondylomegaepiphyseal dysplasia-COL11A2): Open Targets Query (Stickler syndrome,otospondylomegaepiphyseal dysplasia-COL11A2, 3 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

  6. (soh2022dominantsticklersyndrome. pages 1-2): Zack Soh, Allan J Richards, Annie McNinch, Philip Alexander, Howard Martin, and Martin P Snead. Dominant stickler syndrome. JournalArticle, Jul 2022. URL: https://doi.org/10.17863/cam.86865, doi:10.17863/cam.86865. This article has 46 citations.

  7. (sheppard2021sticklersyndrome pages 3-4): Mary B. Sheppard and Clair A. Francomano. Stickler syndrome. Cassidy and Allanson's Management of Genetic Syndromes, pages 915-926, Oct 2021. URL: https://doi.org/10.1002/9781119432692.ch56, doi:10.1002/9781119432692.ch56. This article has 0 citations.

  8. (acke2022hearinglossin pages 2-4): Frederic R. E. Acke and Els M. R. De Leenheer. Hearing loss in stickler syndrome: an update. Genes, 13:1571, Sep 2022. URL: https://doi.org/10.3390/genes13091571, doi:10.3390/genes13091571. This article has 28 citations.

  9. (melkoniemi2000autosomalrecessivedisorder pages 1-2): Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, and Leena Ala-Kokko. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the col11a2 gene. American journal of human genetics, 66 2:368-77, Feb 2000. URL: https://doi.org/10.1086/302750, doi:10.1086/302750. This article has 107 citations and is from a highest quality peer-reviewed journal.

  10. (melkoniemi2000autosomalrecessivedisorder pages 6-9): Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, and Leena Ala-Kokko. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the col11a2 gene. American journal of human genetics, 66 2:368-77, Feb 2000. URL: https://doi.org/10.1086/302750, doi:10.1086/302750. This article has 107 citations and is from a highest quality peer-reviewed journal.

  11. (selvam2020novelcol11a2pathogenic pages 3-4): Pavalan Selvam, Shekhar Singh, Angita Jain, Herjot Atwal, and Paldeep S. Atwal. Novel col11a2 pathogenic variants in a child with autosomal recessive otospondylomegaepiphyseal dysplasia: a review of the literature. Journal of Pediatric Genetics, 09:117-120, Oct 2020. URL: https://doi.org/10.1055/s-0039-1698446, doi:10.1055/s-0039-1698446. This article has 4 citations and is from a peer-reviewed journal.

  12. (melkoniemi2000autosomalrecessivedisorder pages 4-6): Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, and Leena Ala-Kokko. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the col11a2 gene. American journal of human genetics, 66 2:368-77, Feb 2000. URL: https://doi.org/10.1086/302750, doi:10.1086/302750. This article has 107 citations and is from a highest quality peer-reviewed journal.

  13. (su2023casereportautosomal pages 6-6): Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, and Wen-Tao He. Case report: autosomal recessive type 3 stickler syndrome caused by compound heterozygous mutations in col11a2. Frontiers in Genetics, Jun 2023. URL: https://doi.org/10.3389/fgene.2023.1154087, doi:10.3389/fgene.2023.1154087. This article has 4 citations and is from a peer-reviewed journal.

  14. (micale2020exontrappingassayimproves pages 1-3): Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, and Marco Castori. Exon-trapping assay improves clinical interpretation of col11a1 and col11a2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia. Genes, 11:1513, Dec 2020. URL: https://doi.org/10.3390/genes11121513, doi:10.3390/genes11121513. This article has 16 citations.

  15. (selvam2020novelcol11a2pathogenic media b73d0cc6): Pavalan Selvam, Shekhar Singh, Angita Jain, Herjot Atwal, and Paldeep S. Atwal. Novel col11a2 pathogenic variants in a child with autosomal recessive otospondylomegaepiphyseal dysplasia: a review of the literature. Journal of Pediatric Genetics, 09:117-120, Oct 2020. URL: https://doi.org/10.1055/s-0039-1698446, doi:10.1055/s-0039-1698446. This article has 4 citations and is from a peer-reviewed journal.

  16. (acke2022hearinglossin pages 4-6): Frederic R. E. Acke and Els M. R. De Leenheer. Hearing loss in stickler syndrome: an update. Genes, 13:1571, Sep 2022. URL: https://doi.org/10.3390/genes13091571, doi:10.3390/genes13091571. This article has 28 citations.

  17. (sheppard2021sticklersyndrome pages 7-8): Mary B. Sheppard and Clair A. Francomano. Stickler syndrome. Cassidy and Allanson's Management of Genetic Syndromes, pages 915-926, Oct 2021. URL: https://doi.org/10.1002/9781119432692.ch56, doi:10.1002/9781119432692.ch56. This article has 0 citations.

  18. (melkoniemi2000autosomalrecessivedisorder pages 2-4): Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, and Leena Ala-Kokko. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the col11a2 gene. American journal of human genetics, 66 2:368-77, Feb 2000. URL: https://doi.org/10.1086/302750, doi:10.1086/302750. This article has 107 citations and is from a highest quality peer-reviewed journal.

  19. (micale2020exontrappingassayimproves pages 11-13): Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, and Marco Castori. Exon-trapping assay improves clinical interpretation of col11a1 and col11a2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia. Genes, 11:1513, Dec 2020. URL: https://doi.org/10.3390/genes11121513, doi:10.3390/genes11121513. This article has 16 citations.

  20. (li2001targeteddisruptionof pages 3-4): Shi‐Wu Li, Masamine Takanosu, Machiko Arita, Yunhua Bao, Zhao‐Xia Ren, Alfred Maier, Darwin J. Prockop, and Richard Mayne. Targeted disruption of col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (osmed). Developmental Dynamics, 222:141-152, Oct 2001. URL: https://doi.org/10.1002/dvdy.1178, doi:10.1002/dvdy.1178. This article has 59 citations and is from a peer-reviewed journal.

  21. (rebello2023col11a2asa pages 4-6): Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, and Brian Ciruna. Col11a2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics, 32:2913-2928, Jul 2023. URL: https://doi.org/10.1093/hmg/ddad117, doi:10.1093/hmg/ddad117. This article has 19 citations and is from a domain leading peer-reviewed journal.

  22. (rebello2023col11a2asa pages 1-2): Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, and Brian Ciruna. Col11a2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics, 32:2913-2928, Jul 2023. URL: https://doi.org/10.1093/hmg/ddad117, doi:10.1093/hmg/ddad117. This article has 19 citations and is from a domain leading peer-reviewed journal.

  23. (rebello2023col11a2asa pages 8-11): Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, and Brian Ciruna. Col11a2 as a candidate gene for vertebral malformations and congenital scoliosis. Human molecular genetics, 32:2913-2928, Jul 2023. URL: https://doi.org/10.1093/hmg/ddad117, doi:10.1093/hmg/ddad117. This article has 19 citations and is from a domain leading peer-reviewed journal.

  24. (li2001targeteddisruptionof pages 6-8): Shi‐Wu Li, Masamine Takanosu, Machiko Arita, Yunhua Bao, Zhao‐Xia Ren, Alfred Maier, Darwin J. Prockop, and Richard Mayne. Targeted disruption of col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (osmed). Developmental Dynamics, 222:141-152, Oct 2001. URL: https://doi.org/10.1002/dvdy.1178, doi:10.1002/dvdy.1178. This article has 59 citations and is from a peer-reviewed journal.

  25. (acke2022hearinglossin pages 6-7): Frederic R. E. Acke and Els M. R. De Leenheer. Hearing loss in stickler syndrome: an update. Genes, 13:1571, Sep 2022. URL: https://doi.org/10.3390/genes13091571, doi:10.3390/genes13091571. This article has 28 citations.

  26. (sabir2021diagnosticyieldof pages 2-4): Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, and Melita Irving. Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, Jun 2021. URL: https://doi.org/10.1186/s12920-021-00993-0, doi:10.1186/s12920-021-00993-0. This article has 23 citations and is from a peer-reviewed journal.

  27. (sabir2021diagnosticyieldof pages 9-12): Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, and Melita Irving. Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, Jun 2021. URL: https://doi.org/10.1186/s12920-021-00993-0, doi:10.1186/s12920-021-00993-0. This article has 23 citations and is from a peer-reviewed journal.

  28. (micale2020exontrappingassayimproves pages 3-5): Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, and Marco Castori. Exon-trapping assay improves clinical interpretation of col11a1 and col11a2 intronic variants in stickler syndrome type 2 and otospondylomegaepiphyseal dysplasia. Genes, 11:1513, Dec 2020. URL: https://doi.org/10.3390/genes11121513, doi:10.3390/genes11121513. This article has 16 citations.

  29. (sheppard2021sticklersyndrome pages 8-9): Mary B. Sheppard and Clair A. Francomano. Stickler syndrome. Cassidy and Allanson's Management of Genetic Syndromes, pages 915-926, Oct 2021. URL: https://doi.org/10.1002/9781119432692.ch56, doi:10.1002/9781119432692.ch56. This article has 0 citations.

  30. (gyokova2026prenatalmoleculardiagnosis pages 6-7): Elitsa Gyokova, Eleonora Hristova-Atanasova, Zlatko Kirovakov, and Kamelia Dimitrova. Prenatal molecular diagnosis of col2a1-associated stickler syndrome: genotype–phenotype correlation in a resource-limited healthcare setting. International Journal of Molecular Sciences, 27:2227, Feb 2026. URL: https://doi.org/10.3390/ijms27052227, doi:10.3390/ijms27052227. This article has 0 citations.

  31. (sheppard2021sticklersyndrome pages 6-7): Mary B. Sheppard and Clair A. Francomano. Stickler syndrome. Cassidy and Allanson's Management of Genetic Syndromes, pages 915-926, Oct 2021. URL: https://doi.org/10.1002/9781119432692.ch56, doi:10.1002/9781119432692.ch56. This article has 0 citations.

  32. (sabir2021diagnosticyieldof pages 1-2): Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, and Melita Irving. Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, Jun 2021. URL: https://doi.org/10.1186/s12920-021-00993-0, doi:10.1186/s12920-021-00993-0. This article has 23 citations and is from a peer-reviewed journal.