Genitopatellar Syndrome (GPS) — Disease Characteristics Research Report

Target Disease

• Disease name: Genitopatellar syndrome (GPS)
• Category: Mendelian (monogenic; KAT6B-related)
• MONDO ID: Not retrievable from tool-accessed sources in this run.

Executive overview

Genitopatellar syndrome (GPS; OMIM/MIM #606170) is a rare, congenital malformation and neurodevelopmental disorder classically defined by patellar aplasia/hypoplasia together with genital anomalies, frequent renal anomalies, and severe neurodevelopmental impairment. It is caused by heterozygous pathogenic variants in KAT6B, usually de novo and typically truncating variants in the terminal exon (exon 18). GPS and the allelic condition Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS; OMIM #603736) are often grouped as a KAT6B-related disorder spectrum with overlapping/intermediate phenotypes. (campeau2012mutationsinkat6b pages 1-2, simpson2012denovomutations pages 1-2, magdalena2023clinicalheterogeneityof pages 1-2, maglione2025phenotypiccharacterizationof pages 1-2)

1. Disease information

1.1 What is the disease?

Early primary descriptions define GPS as a disorder where “patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability” (2012 AJHG) and highlight renal anomalies and corpus callosum agenesis as common associated findings. (simpson2012denovomutations pages 1-2, simpson2012denovomutations pages 2-4)

1.2 Key identifiers

• OMIM/MIM (disease): GPS 606170 (simpson2012denovomutations pages 1-2)
• OMIM/MIM (allelic disorder): SBBYSS 603736 (davarnia2024denovokat6b pages 1-2, maglione2025phenotypiccharacterizationof pages 1-2)
• Gene: KAT6B (lysine/histone acetyltransferase) (magdalena2023clinicalheterogeneityof pages 1-2, sun2023clinicalfeaturesand pages 2-4)
• Genomic locus: 10q22.2 (magdalena2023clinicalheterogeneityof pages 1-2)
• Orphanet / MeSH / ICD-10/11 / MONDO: Not explicitly present in the tool-retrieved evidence in this run; therefore not provided.

1.3 Synonyms and alternative names

• GTPTS (abbreviation used in later KAT6B literature) (niida2017asay‐barber‐biesecker‐young‐simpsonvariant pages 6-9)
• “KAT6B-related disorders” / “KAT6B spectrum disorders” (umbrella category frequently used for GPS and SBBYSS) (magdalena2023clinicalheterogeneityof pages 1-2, maglione2025phenotypiccharacterizationof pages 1-2)

1.4 Evidence source types

Most GPS knowledge is derived from aggregated disease-level resources built from case reports and case series, including landmark exome-discovery cohorts (2012) and subsequent multi-center cohorts and literature reviews. (campeau2012mutationsinkat6b pages 1-2, campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 16-18)

2. Etiology

2.1 Primary causes

GPS is a monogenic disorder caused by heterozygous pathogenic variants in KAT6B, most often truncating variants in the terminal exons (especially exon 18). Primary evidence comes from exome sequencing discovery studies showing de novo truncating variants. (simpson2012denovomutations pages 1-2, campeau2012mutationsinkat6b pages 1-2)

Key discovery abstract quote (Simpson et al., 2012 AJHG): “Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS.” (simpson2012denovomutations pages 1-2)

2.2 Risk factors

• Genetic: The core “risk factor” is carrying a pathogenic KAT6B variant; most arise de novo (autosomal dominant) based on parental testing. (campeau2012mutationsinkat6b pages 1-2, simpson2012denovomutations pages 1-2)
• Environmental: No environmental risk factors were identified in the tool-retrieved GPS-specific literature.

2.3 Protective factors / gene–environment interactions

No protective factors or gene–environment interactions were identified in the tool-retrieved GPS-specific sources.

3. Phenotypes (clinical features)

3.1 Core phenotype spectrum and frequencies

GPS presents congenitally with multisystem malformations. The strongest frequency data in the tool-retrieved evidence come from (i) Campeau et al., 2012 aggregated GPS cohort and (ii) Yabumoto et al., 2021 GPS subset (n=7) within a KAT6B spectrum cohort.

Visual evidence: Campeau et al. Table 1 summarizes GPS clinical feature frequencies and is provided in cropped form here. (campeau2012mutationsinkat6b media 6fcb6bbc, campeau2012mutationsinkat6b media d2fd0246, campeau2012mutationsinkat6b media 698f1663)

Table: This table summarizes key Genitopatellar syndrome clinical features with suggested HPO mappings and compares frequencies reported in the original Campeau 2012 cohort versus the GPS subset in Yabumoto 2021. It is useful for structured phenotype curation and for identifying high-consistency hallmark findings.

Notable GPS-associated findings (examples; see artifact table for frequencies): - Musculoskeletal: absent/hypoplastic patellae; lower-limb flexion contractures; clubfoot; hip dysplasia/contractures. (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9) - Neurodevelopment/CNS: microcephaly; agenesis/hypoplasia of corpus callosum; severe developmental delay/intellectual disability; profound language impairment; impaired mobility/non-ambulatory. (simpson2012denovomutations pages 2-4, yabumoto2021novelvariantsin pages 8-9) - Renal/urinary: hydronephrosis and/or renal cystic anomalies are frequent. (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9) - Cardiac: septal defects (ASD/VSD) are common in cohorts. (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9) - Genital: hallmark genital anomalies; one large review reports genital anomalies in 94% of GPS (vs 43% in SBBYSS). (maglione2025phenotypiccharacterizationof pages 8-9)

3.2 Phenotype characteristics: onset, severity, progression

• Onset: Typically congenital; many features are detected prenatally by ultrasound (structural anomalies) or at birth. (back2024genitopatellarsyndromewith pages 1-5, yabumoto2021novelvariantsin pages 8-9)
• Severity/variability: Severe developmental impairment is typical of classic GPS, though intermediate phenotypes exist across the KAT6B spectrum. (maglione2025phenotypiccharacterizationof pages 1-2, magdalena2023clinicalheterogeneityof pages 1-2)

3.3 Quality of life and functional impact

Direct QoL instrument data (EQ-5D/SF-36) were not identified in tool-retrieved GPS sources. However, functional burden is strongly implied by: - Profound/severe language impairment (100% in one GPS subset) and delayed mobility/non-ambulatory status (100% in the same subset). (yabumoto2021novelvariantsin pages 8-9) - Frequent feeding problems and multisystem complications that require multidisciplinary care. (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 16-18)

3.4 Suggested HPO term set (examples)

A curated HPO mapping is included in the phenotype-frequency artifact; key terms include Absent patella (HP:0006498), Flexion contracture (HP:0001371), Microcephaly (HP:0000252), Agenesis of corpus callosum (HP:0001274), Hydronephrosis (HP:0000126), Global developmental delay (HP:0001263), and Intellectual disability (HP:0001249). (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9)

4. Genetic / molecular information

4.1 Causal gene

• KAT6B encodes a conserved MYST-family histone acetyltransferase implicated in chromatin regulation during development. (magdalena2023clinicalheterogeneityof pages 1-2, sun2023clinicalfeaturesand pages 2-4)

4.2 Pathogenic variant classes and architecture

Primary discovery studies found that GPS is most often caused by de novo heterozygous truncating variants clustered in exon 18, predicted to truncate the protein before specific C-terminal domains.

Key discovery cohort statements: - Variants cluster in terminal exon and are truncating; mutant transcripts can be present (escape NMD). (simpson2012denovomutations pages 2-4, simpson2012denovomutations pages 1-2) - Campeau et al. concluded the truncations remove the transcriptional activation domain and that the mutant is impaired in transcriptional activation. (campeau2012mutationsinkat6b pages 4-5)

Variant-type statistics from a 2023 synthesis of reported KAT6B disease variants: 33 frameshift, 19 nonsense, 2 missense, and 2 splicing defects at the protein level, with enrichment in exon 18. (sun2023clinicalfeaturesand pages 1-2)

4.3 Inheritance, penetrance, and expressivity

• Inheritance: Autosomal dominant; predominantly de novo in reported cases, supported by parental testing in discovery and later cohorts. (campeau2012mutationsinkat6b pages 1-2, simpson2012denovomutations pages 1-2)
• Penetrance/expressivity: Quantitative penetrance estimates were not available in retrieved sources; variable expressivity and intermediate phenotypes are widely described across KAT6B-related disorders. (maglione2025phenotypiccharacterizationof pages 1-2, magdalena2023clinicalheterogeneityof pages 1-2)

4.4 Genotype–phenotype correlations

A 2023 Polish cohort review notes approximate codon ranges where variants more often correlate with SBBYSS vs GPS (with intermediate ranges) and emphasizes that the molecular mechanism (escape vs induction of nonsense-mediated decay) can influence phenotype. (magdalena2023clinicalheterogeneityof pages 1-2)

5. Environmental information

GPS is fundamentally a genetic developmental disorder; no consistent non-genetic environmental contributors were identified in the tool-retrieved GPS literature.

6. Mechanism / pathophysiology

6.1 Current mechanistic understanding

GPS is a chromatin-regulatory disorder linked to altered histone acetylation and downstream developmental gene dysregulation.

• Patient-derived cells in a discovery paper show altered acetylation: “We demonstrate a reduced level of both histone H3 and H4 acetylation in patient-derived cells.” (simpson2012denovomutations pages 1-2)
• GPS-associated truncations often escape nonsense-mediated decay and produce truncated proteins lacking C-terminal domains; Campeau et al. hypothesize dominant-negative or gain-of-function effects on cellular signaling. (campeau2012mutationsinkat6b pages 4-5, simpson2012denovomutations pages 2-4)

6.2 Pathways and downstream programs (omics)

In a KAT6B spectrum cohort with engineered cell models, transcriptome analysis identified differentially expressed genes enriched for processes aligned with the phenotype (skeletal ossification, urogenital development, axonal development). (yabumoto2021novelvariantsin pages 16-18)

6.3 Model systems and recent preclinical therapeutics (2024)

A 2024 Journal of Clinical Investigation study developed mechanistic and therapeutic proof-of-principle in Kat6b+/– mice and human cells with SBBYSS mutations: - Kat6b haploinsufficiency reduces Kat6b mRNA (e.g., ~48% reduction in adult cortex) and reduces histone acetylation marks including H3K9ac. (bergamasco2024increasinghistoneacetylation pages 1-2, bergamasco2024increasinghistoneacetylation pages 2-4) - Postnatal treatment strategies increasing histone acetylation were tested: an HDAC inhibitor (valproic acid) and an acetyl donor (acetyl-carnitine). Both improved sociability; ALCAR restored learning and memory in the mouse model. (bergamasco2024increasinghistoneacetylation pages 1-2) - Quantitative effects include VPA-induced increases in histone acetylation (e.g., cortical H3K9/H3K14/H3K23 acetylation increased 1.2–1.4-fold with strong P-values) and measurable behavioral changes, with potential adverse effects (motor coordination). (bergamasco2024increasinghistoneacetylation pages 6-8)

Interpretation: these results support a mechanism where a component of the neurobehavioral phenotype may be modifiable by altering acetylation balance; however, evidence is preclinical and was performed in SBBYSS-oriented models, not GPS-specific clinical trials. (bergamasco2024increasinghistoneacetylation pages 1-2, bergamasco2024increasinghistoneacetylation pages 6-8)

6.4 Suggested ontology terms (mechanism-related)

• GO Biological Process (examples): chromatin organization; histone acetylation; regulation of transcription; skeletal system development; urogenital system development; nervous system development (supported by omics enrichment statements). (yabumoto2021novelvariantsin pages 16-18, simpson2012denovomutations pages 1-2)
• GO Cellular Component (examples): nucleus; chromatin.
• CL Cell types (examples): neural progenitor cells / cortical neurons (supported by the KAT6B neurodevelopment model context in 2024 JCI). (bergamasco2024increasinghistoneacetylation pages 1-2)

7. Anatomical structures affected

GPS affects multiple organ systems: - Skeletal system: patellae, hips, long bones, feet (contractures/clubfoot). (campeau2012mutationsinkat6b pages 2-4) - CNS: corpus callosum and brain development (microcephaly/ACC). (simpson2012denovomutations pages 2-4, campeau2012mutationsinkat6b pages 2-4) - Genitourinary system: genital anomalies; kidneys/urinary tract (hydronephrosis/renal cysts). (campeau2012mutationsinkat6b pages 2-4, maglione2025phenotypiccharacterizationof pages 8-9) - Cardiovascular: congenital heart defects (ASD/VSD). (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9)

Suggested UBERON examples: patella; kidney; corpus callosum; gonad/external genitalia; heart.

8. Temporal development

• Prenatal/Neonatal: Many cases have prenatal ultrasound anomalies; neonatal intensive care may be required depending on airway/GI/genitourinary malformations. (back2024genitopatellarsyndromewith pages 1-5, back2024genitopatellarsyndromewith pages 5-7)
• Childhood: Persistent severe neurodevelopmental impairment, orthopedic limitations, and ongoing multispecialty needs; radiographs may show persistent patellar non-ossification. (niida2017asay‐barber‐biesecker‐young‐simpsonvariant pages 6-9)

9. Inheritance and population

9.1 Epidemiology

• Prevalence/incidence: Not established in tool-retrieved sources; one 2023 report explicitly states that prevalence is unknown for KAT6B disease. (sun2023clinicalfeaturesand pages 1-2)
• Case-count based indicators (not population prevalence):
• A 2023 summary noted that among 89 published KAT6B cases, 18 were GPS, 58 SBBYSS, and 13 intermediate. (sun2023clinicalfeaturesand pages 1-2)
• A 2024 GPS case report, summarizing newer literature, reported ~157 total KAT6B mutation patients and 37 GPS patients (as of that report’s synthesis). (back2024genitopatellarsyndromewith pages 5-7)

9.2 Inheritance pattern

• Autosomal dominant, usually de novo. (simpson2012denovomutations pages 1-2, campeau2012mutationsinkat6b pages 1-2)

Sex ratio, founder effects, and carrier frequency were not reported in the tool-retrieved evidence.

10. Diagnostics

10.1 Recommended diagnostic approach (current practice)

GPS diagnosis is based on a combination of characteristic clinical findings and molecular confirmation of a pathogenic KAT6B variant.

Molecular testing evidence: - Exome sequencing was a successful discovery and diagnostic approach: “Using an exome-sequencing approach…” with subsequent Sanger confirmation and parental testing to establish de novo status. (simpson2012denovomutations pages 1-2)

Clinical workup examples in retrieved reports include: - Brain MRI for corpus callosum agenesis and other malformations. (back2024genitopatellarsyndromewith pages 1-5) - Skeletal imaging (knee/lower limb radiographs; skeletal survey). (burgo2025skeletalsurveyof pages 4-7, niida2017asay‐barber‐biesecker‐young‐simpsonvariant pages 6-9) - Renal imaging for hydronephrosis/cysts. (back2024genitopatellarsyndromewith pages 5-7)

Emerging diagnostics: - A 2023 KAT6B cohort cites the broader clinical epigenomics literature on DNA methylation episignatures as diagnostic tools for Mendelian disorders, but KAT6B/GPS-specific episignature implementation is not detailed in the extracted text. (magdalena2023clinicalheterogeneityof pages 10-10)

10.2 Differential diagnosis (high-level)

• SBBYSS (KAT6B allelic): overlaps with GPS but is often described with more prominent facial/ocular features (mask-like face, blepharophimosis), lacrimal duct anomalies, and long thumbs/great toes; GPS is distinguished by more severe developmental delay and prominent genital/renal anomalies with contractures. (maglione2025phenotypiccharacterizationof pages 1-2, niida2017asay‐barber‐biesecker‐young‐simpsonvariant pages 6-9)

11. Outcome / prognosis

Formal survival curves and life expectancy estimates were not identified in tool-retrieved sources. However, natural history data indicate possible neonatal mortality with substantial survival beyond the neonatal period: - Campeau et al. report: “Ten out of thirteen children survived beyond neonatal period and were included.” (campeau2012mutationsinkat6b pages 4-5)

Major morbidity drivers include congenital malformations (renal/cardiac/airway/GI), severe developmental impairment, and orthopedic disability. (campeau2012mutationsinkat6b pages 2-4, yabumoto2021novelvariantsin pages 8-9)

12. Treatment

12.1 Current standard-of-care (real-world implementation)

No disease-modifying therapy is established for GPS; care is supportive and surgical when indicated.

Examples of real-world implementations from recent GPS case reports: - Neonatal surgical correction (e.g., anal atresia; airway surgery for laryngomalacia) and prophylactic management for hydronephrosis (antibiotic prophylaxis). (back2024genitopatellarsyndromewith pages 5-7) - Surgeries in KAT6B-related disorders such as cryptorchidism repair and cardiac defect repair were reported in individual cases. (sun2023clinicalfeaturesand pages 2-4)

A structured set of monitoring and supportive-management recommendations (including MAXO suggestions) is summarized below.

Table: This table summarizes practical diagnostic, monitoring, and supportive-management recommendations for genitopatellar syndrome and related KAT6B disorders, with suggested MAXO-style action labels. It is useful for translating case-series and cohort evidence into structured knowledge-base actions.

12.2 Experimental / preclinical therapeutics

A 2024 JCI study provides proof-of-principle that increasing histone acetylation (valproic acid, acetyl-carnitine) can partially rescue behavioral phenotypes in a Kat6b haploinsufficiency model and in human-engineered cell lines. This is not yet evidence of clinical efficacy in GPS patients, but it is a significant research development in 2023–2024 for KAT6B disorders broadly. (bergamasco2024increasinghistoneacetylation pages 1-2, bergamasco2024increasinghistoneacetylation pages 6-8)

12.3 Clinical trials

A tool-based clinical trial search did not identify GPS-specific interventional trials in the retrieved set; one retrieved Phase 1 oncology trial (OP-3136) is not GPS-directed. Therefore, no GPS-targeted trial landscape can be claimed from the retrieved evidence. (clinical trial retrieval summary in tool state; no citeable trial-context ID was produced for GPS relevance)

13. Prevention

No primary prevention exists for de novo GPS. Prevention focuses on genetic counseling, recurrence-risk counseling, and prenatal testing options when a familial variant is known. - GPS is predominantly de novo autosomal dominant; multiple reports emphasize counseling after molecular diagnosis. (campeau2012mutationsinkat6b pages 1-2, yabumoto2021novelvariantsin pages 1-3)

14. Other species / natural disease

No naturally occurring GPS orthologous disease in other species was identified in the tool-retrieved evidence.

15. Model organisms

• Mouse (Kat6b+/–): Used to model KAT6B haploinsufficiency and neurobehavioral phenotypes; supports therapeutic proof-of-principle targeting histone acetylation. (bergamasco2024increasinghistoneacetylation pages 1-2, bergamasco2024increasinghistoneacetylation pages 6-8)
• Engineered human cell lines (CRISPR): Used to introduce truncating KAT6B variants and study histone acetylation and gene expression effects. (bergamasco2024increasinghistoneacetylation pages 1-2, yabumoto2021novelvariantsin pages 1-3)

Key recent developments (prioritizing 2023–2024)

1. 2024 preclinical therapeutic proof-of-principle: postnatal interventions (valproic acid; acetyl-carnitine) increased histone acetylation and improved sociability and cognition in Kat6b+/– mice, suggesting potential modifiability of downstream chromatin state. (bergamasco2024increasinghistoneacetylation pages 1-2, bergamasco2024increasinghistoneacetylation pages 6-8)
2. 2023–2024 continued case ascertainment and variant expansion: new de novo truncating variants and detailed neonatal care pathways continue to be reported, increasing cumulative case counts and refining genotype–phenotype discussions. (back2024genitopatellarsyndromewith pages 5-7, sun2023clinicalfeaturesand pages 2-4, magdalena2023clinicalheterogeneityof pages 1-2)

Identifier/genetics summary table

Table: This table summarizes the main disease identifiers, synonyms, and core genetic facts for Genitopatellar syndrome from the gathered primary and recent literature. It is useful as a compact reference for knowledge-base fields covering disease naming, allelic relationships, inheritance, and variant architecture.

Limitations of this report (due to tool-accessible sources)

• Orphanet, MONDO, MeSH, and ICD identifiers were not explicitly present in the retrieved texts; they are therefore not provided here.
• Population prevalence/incidence is not established in the retrieved evidence and is explicitly described as unknown in at least one recent summary. (sun2023clinicalfeaturesand pages 1-2)
• QoL instruments and long-term survival statistics were not available in the retrieved GPS-specific evidence.

References

1. (campeau2012mutationsinkat6b pages 1-2): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

2. (simpson2012denovomutations pages 1-2): Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen-Snuijf, Sarina G. Kant, Lies H. Hoefsloot, Willie Reardon, Han G. Brunner, Ernie M.H.F. Bongers, and Richard C. Trembath. De novo mutations of the gene encoding the histone acetyltransferase kat6b cause genitopatellar syndrome. American journal of human genetics, 90 2:290-4, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.024, doi:10.1016/j.ajhg.2011.11.024. This article has 125 citations and is from a highest quality peer-reviewed journal.

3. (magdalena2023clinicalheterogeneityof pages 1-2): Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, and Smigiel Robert. Clinical heterogeneity of polish patients with kat6b–related disorder. Molecular Genetics & Genomic Medicine, Sep 2023. URL: https://doi.org/10.1002/mgg3.2265, doi:10.1002/mgg3.2265. This article has 6 citations and is from a peer-reviewed journal.

4. (maglione2025phenotypiccharacterizationof pages 1-2): Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, and Viviana Cardilli. Phenotypic characterization of seven pediatric patients diagnosed with kat6b-related disorders: case series and review of the literature. American journal of medical genetics. Part A, pages e64100, Apr 2025. URL: https://doi.org/10.1002/ajmg.a.64100, doi:10.1002/ajmg.a.64100. This article has 1 citations and is from a peer-reviewed journal.

5. (simpson2012denovomutations pages 2-4): Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen-Snuijf, Sarina G. Kant, Lies H. Hoefsloot, Willie Reardon, Han G. Brunner, Ernie M.H.F. Bongers, and Richard C. Trembath. De novo mutations of the gene encoding the histone acetyltransferase kat6b cause genitopatellar syndrome. American journal of human genetics, 90 2:290-4, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.024, doi:10.1016/j.ajhg.2011.11.024. This article has 125 citations and is from a highest quality peer-reviewed journal.

6. (davarnia2024denovokat6b pages 1-2): Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, and Farhad Jeddi. De novo kat6b mutation causes say–barber–biesecker–young–simpson variant of ohdo syndrome in an iranian boy: a case report. Journal of Medical Case Reports, Jan 2024. URL: https://doi.org/10.1186/s13256-023-04237-w, doi:10.1186/s13256-023-04237-w. This article has 7 citations and is from a peer-reviewed journal.

7. (sun2023clinicalfeaturesand pages 2-4): Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, and Yucai Chen. Clinical features and underlying mechanisms of kat6b disease in a chinese boy. Molecular Genetics & Genomic Medicine, Jun 2023. URL: https://doi.org/10.1002/mgg3.2202, doi:10.1002/mgg3.2202. This article has 3 citations and is from a peer-reviewed journal.

8. (niida2017asay‐barber‐biesecker‐young‐simpsonvariant pages 6-9): Yo Niida, Yusuke Mitani, Mondo Kuroda, Ayano Yokoi, Hiroyasu Nakagawa, and Akiko Kato. A say‐barber‐biesecker‐young‐simpson variant of ohdo syndrome with a kat6b 10‐base pair palindromic duplication: a recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. Congenital Anomalies, 57:86-88, May 2017. URL: https://doi.org/10.1111/cga.12196, doi:10.1111/cga.12196. This article has 22 citations and is from a peer-reviewed journal.

9. (campeau2012mutationsinkat6b pages 2-4): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

10. (yabumoto2021novelvariantsin pages 16-18): Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, and Valerie A. Arboleda. Novel variants in kat6b spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics & Genomic Medicine, Sep 2021. URL: https://doi.org/10.1002/mgg3.1809, doi:10.1002/mgg3.1809. This article has 15 citations and is from a peer-reviewed journal.

11. (campeau2012mutationsinkat6b media 6fcb6bbc): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

12. (campeau2012mutationsinkat6b media d2fd0246): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

13. (campeau2012mutationsinkat6b media 698f1663): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

14. (yabumoto2021novelvariantsin pages 8-9): Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, and Valerie A. Arboleda. Novel variants in kat6b spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics & Genomic Medicine, Sep 2021. URL: https://doi.org/10.1002/mgg3.1809, doi:10.1002/mgg3.1809. This article has 15 citations and is from a peer-reviewed journal.

15. (back2024genitopatellarsyndromewith pages 5-7): Warren Back, Adam Mierzwa, and Naeem Mahfooz. Genitopatellar syndrome with a novel variant in the kat6b gene: supporting spectrum delineation. Cureus, Sep 2024. URL: https://doi.org/10.7759/cureus.69989, doi:10.7759/cureus.69989. This article has 1 citations.

16. (campeau2012mutationsinkat6b pages 4-5): Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, and Brendan H. Lee. Mutations in kat6b, encoding a histone acetyltransferase, cause genitopatellar syndrome. American journal of human genetics, 90 2:282-9, Feb 2012. URL: https://doi.org/10.1016/j.ajhg.2011.11.023, doi:10.1016/j.ajhg.2011.11.023. This article has 163 citations and is from a highest quality peer-reviewed journal.

17. (maglione2025phenotypiccharacterizationof pages 8-9): Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, and Viviana Cardilli. Phenotypic characterization of seven pediatric patients diagnosed with kat6b-related disorders: case series and review of the literature. American journal of medical genetics. Part A, pages e64100, Apr 2025. URL: https://doi.org/10.1002/ajmg.a.64100, doi:10.1002/ajmg.a.64100. This article has 1 citations and is from a peer-reviewed journal.

18. (back2024genitopatellarsyndromewith pages 1-5): Warren Back, Adam Mierzwa, and Naeem Mahfooz. Genitopatellar syndrome with a novel variant in the kat6b gene: supporting spectrum delineation. Cureus, Sep 2024. URL: https://doi.org/10.7759/cureus.69989, doi:10.7759/cureus.69989. This article has 1 citations.

19. (sun2023clinicalfeaturesand pages 1-2): Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, and Yucai Chen. Clinical features and underlying mechanisms of kat6b disease in a chinese boy. Molecular Genetics & Genomic Medicine, Jun 2023. URL: https://doi.org/10.1002/mgg3.2202, doi:10.1002/mgg3.2202. This article has 3 citations and is from a peer-reviewed journal.

20. (bergamasco2024increasinghistoneacetylation pages 1-2): Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, and Anne K. Voss. Increasing histone acetylation improves sociability and restores learning and memory in kat6b-haploinsufficient mice. The Journal of Clinical Investigation, Apr 2024. URL: https://doi.org/10.1172/jci167672, doi:10.1172/jci167672. This article has 19 citations.

21. (bergamasco2024increasinghistoneacetylation pages 2-4): Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, and Anne K. Voss. Increasing histone acetylation improves sociability and restores learning and memory in kat6b-haploinsufficient mice. The Journal of Clinical Investigation, Apr 2024. URL: https://doi.org/10.1172/jci167672, doi:10.1172/jci167672. This article has 19 citations.

22. (bergamasco2024increasinghistoneacetylation pages 6-8): Maria I. Bergamasco, Hannah K. Vanyai, Alexandra L. Garnham, Niall D. Geoghegan, Adam P. Vogel, Samantha Eccles, Kelly L. Rogers, Gordon K. Smyth, Marnie E. Blewitt, Anthony J. Hannan, Tim Thomas, and Anne K. Voss. Increasing histone acetylation improves sociability and restores learning and memory in kat6b-haploinsufficient mice. The Journal of Clinical Investigation, Apr 2024. URL: https://doi.org/10.1172/jci167672, doi:10.1172/jci167672. This article has 19 citations.

23. (burgo2025skeletalsurveyof pages 4-7): Terence Burgo and Brian Andrich Pollo. Skeletal survey of a filipino teenage female with ohdo syndrome: case report. Unknown journal, Jul 2025. URL: https://doi.org/10.1590/scielopreprints.12720, doi:10.1590/scielopreprints.12720.

24. (magdalena2023clinicalheterogeneityof pages 10-10): Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, and Smigiel Robert. Clinical heterogeneity of polish patients with kat6b–related disorder. Molecular Genetics & Genomic Medicine, Sep 2023. URL: https://doi.org/10.1002/mgg3.2265, doi:10.1002/mgg3.2265. This article has 6 citations and is from a peer-reviewed journal.

25. (yabumoto2021novelvariantsin pages 1-3): Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, and Valerie A. Arboleda. Novel variants in kat6b spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics & Genomic Medicine, Sep 2021. URL: https://doi.org/10.1002/mgg3.1809, doi:10.1002/mgg3.1809. This article has 15 citations and is from a peer-reviewed journal.

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