Home / Deep Research / MECP2 Duplication Syndrome

MECP2 Duplication Syndrome

1. Disease Information

2026-05-09
Falcon MONDO:0010436 Model: Edison Scientific Literature 22 citations

1. Disease Information

What is the disease?

Key identifiers (from retrieved literature)

Synonyms / alternative names

Evidence type note

Evidence in this report derives from: - Aggregated cohort resources/registries (e.g., International MECP2 Duplication Database; population epidemiology) (giudice‐nairn2019theincidenceprevalence pages 1-2, ta2022medicalcomorbiditiesin pages 6-7) - Prospective/retrospective natural history and caregiver-reported surveys (percy2023currentstatusof pages 11-15, ak2022exploringthecharacteristics pages 1-2) - Molecular/genomic cohort studies integrating omics and deep phenotyping (pehlivan2024structuralvariantallelic pages 1-2) - Mechanistic model systems (mouse and iPSC-derived human neurons) (maino2024anirak1mecp2tandem pages 23-26, bajikar2024modelingantisenseoligonucleotide pages 1-2)

2. Etiology

Disease causal factors

Risk factors

  • Genetic: Having an Xq28 MECP2 duplication/triplication; most affected males inherit the duplication from carrier mothers, though de novo events occur. (ta2022abriefhistory pages 2-4, giudice‐nairn2019theincidenceprevalence pages 1-2)
  • Sex: Marked male predominance; females often asymptomatic due to skewed X-inactivation, but affected females exist. (ta2022abriefhistory pages 2-4, giudice‐nairn2019theincidenceprevalence pages 1-2)

Protective factors

No validated genetic or environmental protective factors were identified in the retrieved corpus.

Gene–environment interactions

Not specifically delineated in the retrieved evidence; respiratory infections and aspiration risk likely interact with hypotonia, dysphagia, reflux, and seizure severity as downstream clinical-pathophysiologic interactions rather than established etiologic GxE. (ta2022medicalcomorbiditiesin pages 6-7, lim2017expandingtheclinical pages 10-13)

3. Phenotypes (with quantitative data where available)

Core neurodevelopmental phenotype

Suggested HPO terms (examples): - Global developmental delay (HP:0001263) - Intellectual disability (HP:0001249) - Hypotonia (HP:0001252) - Absent speech (HP:0001344) / Severely impaired speech (HP:0002465)

Epilepsy

Suggested HPO terms: - Seizures (HP:0001250) - Epileptic encephalopathy (HP:0200134) - Status epilepticus (HP:0002133) - Lennox-Gastaut syndrome (HP:0007180)

Respiratory infections / aspiration and pulmonary complications

  • Australian childhood cohort: ~75% had a history of pneumonia. (giudice‐nairn2019theincidenceprevalence pages 1-2)
  • Registry cohort: aspiration is common—55% (81/147) aspirated occasionally/frequently; 23% (33/146) aspirated into lungs in the past 12 months; 53% (78/146) could not effectively clear chest secretions. (ta2022medicalcomorbiditiesin pages 6-7)
  • Cardiac/pulmonary: pulmonary hypertension is described as a rare but life-threatening complication with reported early death; authors recommend early cardiac assessment and ongoing monitoring. (giudice‐nairn2019theincidenceprevalence pages 1-2)

Suggested HPO terms: - Recurrent respiratory infections (HP:0002205) - Pneumonia (HP:0002090) - Aspiration (HP:0002835) - Pulmonary hypertension (HP:0002092)

Gastrointestinal and feeding phenotype

Suggested HPO terms: - Constipation (HP:0002019) - Gastroesophageal reflux (HP:0002020) - Intestinal dysmotility (HP:0002572)

Autonomic/vasomotor and related features

Suggested HPO terms: - Autonomic nervous system abnormality (HP:0012332) - Cold extremities (HP:0002046) - Breath-holding spells (HP:0002598)

Sleep-disordered breathing and pain sensitivity

Suggested HPO terms: - Sleep apnea (HP:0010535) - Abnormality of pain sensation (HP:0004305)

Musculoskeletal/bone health

Suggested HPO terms: - Osteopenia (HP:0011002) - Fractures (HP:0002659)

Quality of life impact

Higher clinical severity in MDS correlates with lower physical health QoL in the reviewed US natural history cohort analyses. (percy2023currentstatusof pages 11-15)

4. Genetic / Molecular Information

Causal gene(s)

Variant class / chromosomal abnormality

Functional consequence

Modifier genes

5. Environmental Information

No primary environmental toxins, lifestyle risks, or infectious agents as causal triggers were identified; infections are prominent complications in the disease course. (ta2022medicalcomorbiditiesin pages 6-7, lim2017expandingtheclinical pages 10-13)

6. Mechanism / Pathophysiology

Molecular pathways and cellular processes (current model)

  1. Genomic duplication/triplication at Xq28 → increased MECP2 transcript and protein (supported by RNA/protein correlation in patient-derived lines). (pehlivan2024structuralvariantallelic pages 1-2)
  2. MeCP2 overabundance (a methylated-DNA binding transcriptional regulator) perturbs neuronal transcription programs and synaptic function/plasticity. (pehlivan2024structuralvariantallelic pages 1-2, maino2024anirak1mecp2tandem pages 23-26)
  3. System-level outcomes: neurodevelopmental impairment, epilepsy, progressive motor dysfunction/spasticity; additionally, immune dysregulation and infection susceptibility may be modified by co-duplication of IRAK1 and MeCP2’s roles in T cell biology. (maino2024anirak1mecp2tandem pages 1-5, maino2024anirak1mecp2tandem pages 23-26)

Key mechanistic data (2023–2024 emphasis)

  • Dose–biomolecule link: MECP2 RNA correlates with MeCP2 protein (Pearson R=0.6) in lymphoblastoid lines; triplications show distinct transcript quantities vs duplications. (pehlivan2024structuralvariantallelic pages 1-2)
  • Genotype–phenotype gradient: Severity (including survival) worsens across rearrangement classes; visual summary available in Pehlivan 2024 figures/tables. (pehlivan2024structuralvariantallelic media 2a375656, pehlivan2024structuralvariantallelic media 1eb0878d)
  • iPSC-derived neurons (human) and ASO response: MDS neurons show “global transcriptional dysregulation,” and MECP2-targeting ASO partially modulates a disease gene signature and partially rescues abnormal neuronal morphology. (bajikar2024modelingantisenseoligonucleotide pages 1-2)
  • Mouse tandem-duplication model including Irak1: Demonstrates neurobehavioral MDS-like phenotype plus an abnormal pro-inflammatory/Th1-skewed response to influenza, with quantified increases in BALF cytokines/chemokines (e.g., IFNγ 6.26-fold; TNFα 2.19-fold). (maino2024anirak1mecp2tandem pages 23-26)

Suggested ontology mappings

7. Anatomical Structures Affected

8. Temporal Development

9. Inheritance and Population

Inheritance

  • X-linked inheritance, predominantly maternal transmission; review suggests ~20% de novo. (ta2022abriefhistory pages 2-4)
  • Australian series: most males inherited from carrier mothers (13/15). (giudice‐nairn2019theincidenceprevalence pages 1-2)

Epidemiology (recent best-available numbers from retrieved sources)

  • Australia birth prevalence: 0.65/100,000 all live births and 1/100,000 males. (giudice‐nairn2019theincidenceprevalence pages 1-2)
  • Estimated live birth prevalence in males: 1/150,000 (review estimate). (ta2022abriefhistory pages 1-2)
  • Diagnostic incidence in Australia: 0.07/100,000 person-years overall, 0.12/100,000 in males. (giudice‐nairn2019theincidenceprevalence pages 1-2)

10. Diagnostics

Recommended/used genetic tests

  • Chromosomal microarray / array-CGH: recommended for children with undiagnosed intellectual disability/global developmental delay in the Australian cohort. (giudice‐nairn2019theincidenceprevalence pages 1-2)
  • qPCR: used historically to detect duplications missed by earlier methods. (ta2022abriefhistory pages 2-4)
  • Karyotyping + WES + CNV-seq: applied in a 2024 pedigree; CNV-seq confirmed a 14.45 Mb Xq27.1–q28 duplication. (zeng2024geneticanalysisof pages 1-2)
  • Advanced structural characterization + omics: 2024 Genome Medicine study combined genomics with RNA-seq and deep HPO phenotyping. (pehlivan2024structuralvariantallelic pages 1-2)

Clinical evaluations/monitoring highlighted

Differential diagnosis

No formal differential diagnosis list was extracted from the retrieved sources; closely related disorders discussed in comparative reviews include Rett syndrome (MECP2 loss-of-function) and other developmental encephalopathies (CDKL5 deficiency, FOXG1 disorder). (percy2023currentstatusof pages 11-15)

11. Outcome / Prognosis

  • Historical minimal-region cohort summarized in Ta 2022 review: 6/11 individuals died before age 25 in one series (indicative of elevated early mortality risk). (ta2022abriefhistory pages 2-4)
  • 2024 genotype–phenotype analyses support that survival and severity worsen with increasing MECP2 dosage and certain rearrangement classes (triplication most severe). (pehlivan2024structuralvariantallelic pages 1-2, pehlivan2024structuralvariantallelic media 2a375656)

12. Treatment

Current standard of care (real-world implementation)

Symptomatic/supportive, multidisciplinary care is standard: management of epilepsy, feeding/GI dysmotility (constipation, reflux), and proactive infection prevention/treatment. Supportive respiratory approaches include airway clearance devices and noninvasive ventilation in a subset. Vaccination and prompt antibiotics are emphasized, and immunoglobulin or prophylactic antibiotics may be used for recurrent infections in some patients. (allison2024mecp2relateddisorderswhile pages 7-8, ta2022medicalcomorbiditiesin pages 6-7)

Suggested MAXO terms (examples): - Antiseizure therapy (MAXO:0000465) (term may vary) - Airway clearance therapy (MAXO:0000747; check exact MAXO) - Noninvasive ventilation (MAXO:0000506; check exact MAXO) - Physical therapy (MAXO:0000011)

Emerging disease-modifying therapies (2023–2024 focus)

Antisense oligonucleotide (ASO) MECP2-lowering strategies

Interventional clinical trials

  • ATTUNE — ION440 (Ionis): Phase 1–2, randomized, double-blind, sham-controlled, multiple-ascending dose trial using intrathecal bolus administration; recruiting; start date 2024-10-21 (NCT06430385). (NCT06430385 chunk 1)

Biomarker/disease progression characterization (trial readiness)

  • Ionis observational biomarker study: Terminated after meeting objectives; included CSF and blood collection (lumbar puncture), EEG/evoked potentials/pupillometry, and multiple clinical scales; primary endpoints included change in MeCP2 in CSF (NCT06014541). (NCT06014541 chunk 1)

Gene therapy and gene-based approaches (expert perspective)

Gene-based therapies must address MECP2’s narrow therapeutic window; experts caution that over-treatment could “convert” toward the opposite dosage disorder, and one-time gene replacement carries irreversibility risk compared with titratable approaches. (allison2024mecp2relateddisorderswhile pages 7-8)

13. Prevention

No primary prevention is available for a germline CNV disorder beyond genetic counseling, carrier testing, and prenatal/preimplantation options where legally/ethically appropriate. Maternal carrier transmission is common, supporting cascade testing in families. (giudice‐nairn2019theincidenceprevalence pages 1-2, ta2022abriefhistory pages 2-4)

14. Other Species / Natural Disease

No naturally occurring non-human veterinary syndrome was identified in the retrieved sources.

15. Model Organisms

Mouse models

Human cellular models

Recent developments and “latest research” highlights (2023–2024)

  1. Large 2024 cohort (n=137) integrating genomics + transcriptomics + deep HPO phenotyping demonstrates graded severity across rearrangement classes and MECP2 RNA–protein correlation, improving genotype–phenotype resolution and informing trial stratification. (pehlivan2024structuralvariantallelic pages 1-2, pehlivan2024structuralvariantallelic media 1eb0878d)
  2. 2024 human iPSC-neuron ASO modeling study provides a translational bridge between mouse rescue data and human neuronal biology, identifying MeCP2-level-responsive gene programs. (bajikar2024modelingantisenseoligonucleotide pages 1-2)
  3. 2024 CRISPR tandem-duplication mouse including Irak1 adds immune dysregulation biology absent from MECP2-only transgenic models, supporting multi-gene contributions to MDS. (maino2024anirak1mecp2tandem pages 1-5, maino2024anirak1mecp2tandem pages 23-26)
  4. Clinical translation (2024 onward): an intrathecal ASO trial (ION440) has entered Phase 1–2 testing in MDS (NCT06430385), and a terminated observational biomarker study (NCT06014541) indicates active biomarker/trajectory definition by industry sponsors. (NCT06430385 chunk 1, NCT06014541 chunk 1)

Visual evidence (genotype–phenotype)

Pehlivan et al. (Genome Medicine 2024) provide figure/table visual summaries of structural rearrangement classes and phenotype severity ordering across classes (tandem duplications through triplications). (pehlivan2024structuralvariantallelic media 2e1d3f3a, pehlivan2024structuralvariantallelic media 1eb0878d, pehlivan2024structuralvariantallelic media 2a375656)

Notes on gaps / limitations of this tool run

  • Ontology identifiers (MONDO, Orphanet, MeSH, ICD-10/11) were not present in the retrieved full text chunks and therefore are not asserted here.
  • Some phenotype frequencies (e.g., pneumonia/bronchitis/GERD/scoliosis exact prevalence) were described qualitatively in the MDBase abstract, but complete numeric tables were not fully captured in retrieved excerpts; a direct full-text table extraction would improve completeness. (ta2022medicalcomorbiditiesin pages 1-2)
  • The CRISPR RNA-editing interventional trial record (NCT06615206) was retrieved earlier but not present in the evidence chunks extracted here; therefore, it is not detailed in this report.

References

  1. (ta2022abriefhistory pages 1-2): Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, and Helen Leonard. A brief history of mecp2 duplication syndrome: 20-years of clinical understanding. Orphanet Journal of Rare Diseases, Mar 2022. URL: https://doi.org/10.1186/s13023-022-02278-w, doi:10.1186/s13023-022-02278-w. This article has 64 citations and is from a peer-reviewed journal.

  2. (pehlivan2024structuralvariantallelic pages 1-2): Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, and Claudia M. B. Carvalho. Structural variant allelic heterogeneity in mecp2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Medicine, Dec 2024. URL: https://doi.org/10.1186/s13073-024-01411-7, doi:10.1186/s13073-024-01411-7. This article has 14 citations and is from a highest quality peer-reviewed journal.

  3. (percy2023currentstatusof pages 11-15): Alan K. Percy, Jeffrey L. Neul, Sarika Peters, Knut Brockmann, Eric Marsh, and Tim Benke. Current status of developmental encephalopathies: rett syndrome, mecp2 duplication disorder, cdkl5 deficiency disorder and foxg1 disorder. Translational Science of Rare Diseases, 6:73-100, Jul 2023. URL: https://doi.org/10.3233/trd-220055, doi:10.3233/trd-220055. This article has 2 citations.

  4. (ta2022medicalcomorbiditiesin pages 6-7): Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, and Helen Leonard. Medical comorbidities in mecp2 duplication syndrome: results from the international mecp2 duplication database. Children, 9:633, Apr 2022. URL: https://doi.org/10.3390/children9050633, doi:10.3390/children9050633. This article has 14 citations.

  5. (pehlivan2024structuralvariantallelic media 2e1d3f3a): Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, and Claudia M. B. Carvalho. Structural variant allelic heterogeneity in mecp2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Medicine, Dec 2024. URL: https://doi.org/10.1186/s13073-024-01411-7, doi:10.1186/s13073-024-01411-7. This article has 14 citations and is from a highest quality peer-reviewed journal.

  6. (pehlivan2024structuralvariantallelic media 2a375656): Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, and Claudia M. B. Carvalho. Structural variant allelic heterogeneity in mecp2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Medicine, Dec 2024. URL: https://doi.org/10.1186/s13073-024-01411-7, doi:10.1186/s13073-024-01411-7. This article has 14 citations and is from a highest quality peer-reviewed journal.

  7. (giudice‐nairn2019theincidenceprevalence pages 1-2): Peter Giudice‐Nairn, Jenny Downs, Kingsley Wong, Dylan Wilson, Daniel Ta, Michael Gattas, David Amor, Elizabeth Thompson, Cathy Kirrali‐Borri, Carolyn Ellaway, and Helen Leonard. The incidence, prevalence and clinical features of mecp2 duplication syndrome in australian children. Journal of Paediatrics and Child Health, 55:1315-1322, Nov 2019. URL: https://doi.org/10.1111/jpc.14399, doi:10.1111/jpc.14399. This article has 47 citations and is from a peer-reviewed journal.

  8. (ak2022exploringthecharacteristics pages 1-2): Muharrem Ak, Bernhard Suter, Zekeriya Akturk, Holly Harris, Kristina Bowyer, Laurence Mignon, Sasidhar Pasupuleti, Daniel G. Glaze, and Davut Pehlivan. Exploring the characteristics and most bothersome symptoms in mecp2 duplication syndrome to pave the path toward developing parent‐oriented outcome measures. Molecular Genetics & Genomic Medicine, Jun 2022. URL: https://doi.org/10.1002/mgg3.1989, doi:10.1002/mgg3.1989. This article has 10 citations and is from a peer-reviewed journal.

  9. (maino2024anirak1mecp2tandem pages 23-26): Eleonora Maino, Ori Scott, Samar Z. Rizvi, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, and Evgueni A. Ivakine. An irak1-mecp2 tandem duplication mouse model for the study of mecp2 duplication syndrome. Disease Models & Mechanisms, Feb 2024. URL: https://doi.org/10.1101/2023.02.07.527511, doi:10.1101/2023.02.07.527511. This article has 1 citations and is from a domain leading peer-reviewed journal.

  10. (bajikar2024modelingantisenseoligonucleotide pages 1-2): Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, Harini P Tirumala, Ying-Wooi Wan, Caroline L Harrop, Jesse D Bengtsson, Claudia M B Carvalho, Davut Pehlivan, Bernhard Suter, Jeffrey L Neul, Zhandong Liu, Paymaan Jafar-Nejad, Frank Rigo, and Huda Y Zoghbi. Modeling antisense oligonucleotide therapy in mecp2 duplication syndrome human ipsc-derived neurons reveals gene expression programs responsive to mecp2 levels. Human Molecular Genetics, 33:1986-2001, Sep 2024. URL: https://doi.org/10.1093/hmg/ddae135, doi:10.1093/hmg/ddae135. This article has 11 citations and is from a domain leading peer-reviewed journal.

  11. (ta2022abriefhistory pages 2-4): Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, and Helen Leonard. A brief history of mecp2 duplication syndrome: 20-years of clinical understanding. Orphanet Journal of Rare Diseases, Mar 2022. URL: https://doi.org/10.1186/s13023-022-02278-w, doi:10.1186/s13023-022-02278-w. This article has 64 citations and is from a peer-reviewed journal.

  12. (lim2017expandingtheclinical pages 10-13): Zhan Lim, Jenny Downs, Jenny Downs, Kingsley Wong, C. Ellaway, C. Ellaway, and Helen Leonard. Expanding the clinical picture of the mecp2 duplication syndrome. Clinical Genetics, 91:557-563, Apr 2017. URL: https://doi.org/10.1111/cge.12814, doi:10.1111/cge.12814. This article has 67 citations and is from a peer-reviewed journal.

  13. (allison2024mecp2relateddisorderswhile pages 4-5): Katherine Allison, Mirjana Maletic-Savatic, and Davut Pehlivan. Mecp2-related disorders while gene-based therapies are on the horizon. Frontiers in Genetics, Feb 2024. URL: https://doi.org/10.3389/fgene.2024.1332469, doi:10.3389/fgene.2024.1332469. This article has 14 citations and is from a peer-reviewed journal.

  14. (allison2024mecp2relateddisorderswhile pages 7-8): Katherine Allison, Mirjana Maletic-Savatic, and Davut Pehlivan. Mecp2-related disorders while gene-based therapies are on the horizon. Frontiers in Genetics, Feb 2024. URL: https://doi.org/10.3389/fgene.2024.1332469, doi:10.3389/fgene.2024.1332469. This article has 14 citations and is from a peer-reviewed journal.

  15. (ta2022medicalcomorbiditiesin pages 9-10): Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, and Helen Leonard. Medical comorbidities in mecp2 duplication syndrome: results from the international mecp2 duplication database. Children, 9:633, Apr 2022. URL: https://doi.org/10.3390/children9050633, doi:10.3390/children9050633. This article has 14 citations.

  16. (maino2024anirak1mecp2tandem pages 1-5): Eleonora Maino, Ori Scott, Samar Z. Rizvi, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, and Evgueni A. Ivakine. An irak1-mecp2 tandem duplication mouse model for the study of mecp2 duplication syndrome. Disease Models & Mechanisms, Feb 2024. URL: https://doi.org/10.1101/2023.02.07.527511, doi:10.1101/2023.02.07.527511. This article has 1 citations and is from a domain leading peer-reviewed journal.

  17. (pehlivan2024structuralvariantallelic media 1eb0878d): Davut Pehlivan, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J. Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S. Shinawi, Virginia E. Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M. Vianna-Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James P. Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, and Claudia M. B. Carvalho. Structural variant allelic heterogeneity in mecp2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Medicine, Dec 2024. URL: https://doi.org/10.1186/s13073-024-01411-7, doi:10.1186/s13073-024-01411-7. This article has 14 citations and is from a highest quality peer-reviewed journal.

  18. (zeng2024geneticanalysisof pages 1-2): Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, and Shuyao Zhu. Genetic analysis of a pedigree with mecp2 duplication syndrome in china. BMC Medical Genomics, Feb 2024. URL: https://doi.org/10.1186/s12920-024-01831-9, doi:10.1186/s12920-024-01831-9. This article has 0 citations and is from a peer-reviewed journal.

  19. (NCT06430385 chunk 1): ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS). Ionis Pharmaceuticals, Inc.. 2024. ClinicalTrials.gov Identifier: NCT06430385

  20. (NCT06014541 chunk 1): Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome. Ionis Pharmaceuticals, Inc.. 2023. ClinicalTrials.gov Identifier: NCT06014541

  21. (ta2022medicalcomorbiditiesin pages 1-2): Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, and Helen Leonard. Medical comorbidities in mecp2 duplication syndrome: results from the international mecp2 duplication database. Children, 9:633, Apr 2022. URL: https://doi.org/10.3390/children9050633, doi:10.3390/children9050633. This article has 14 citations.