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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Open accessAbstract
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to accumulate a large cohort with genetic alterations of chromosomal region 2q23.1 and acquired 65 subjects with microdeletion or translocation. We sequenced translocation breakpoints; aligned microdeletions to determine the critical region; assessed effects on mRNA expression; and examined medical records, photos, and clinical evaluations. We identified a single gene, methyl-CpG-binding domain 5 (MBD5), as the only locus that defined the critical region. Partial or complete deletion of MBD5 was associated with haploinsufficiency of mRNA expression, intellectual disability, epilepsy, and autistic features. Fourteen alterations, including partial deletions of noncoding regions not typically captured or considered pathogenic by current diagnostic screening, disrupted MBD5 alone. Expression profiles and clinical characteristics were largely indistinguishable between MBD5-specific alteration and deletion of the entire 2q23.1 interval. No copy-number alterations of MBD5 were observed in 7878 controls, suggesting MBD5 alterations are highly penetrant. We surveyed MBD5 coding variations among 747 ASD subjects compared to 2043 non-ASD subjects analyzed by whole-exome sequencing and detected an association with a highly conserved methyl-CpG-binding domain missense variant, p.79Gly>Glu (c.236G>A) (p = 0.012). These results suggest that genetic alterations of MBD5 cause features of 2q23.1 microdeletion syndrome and that this epigenetic regulator significantly contributes to ASD risk, warranting further consideration in research and clinical diagnostic screening and highlighting the importance of chromatin remodeling in the etiology of these complex disorders.
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“they usually contain multiple genes (with a few exceptions (Bucan et al., 2009; Talkowski et al., 2011))”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Talkowski et al., 2011
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Extended spectrum of MBD5 mutations in neurodevelopmental disorders
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Metadata
- Authors
- Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A. M., Morton, C. C., An, Y., Astbury, C., Brueton, L. A., Lichtenbelt, K. D., Ades, L. C., Fichera, M., Romano, C., Innis, J. W., Williams, C. A., Bartholomew, D., Van Allen, M. I., Parikh, A., Zhang, L., Wu, B.-L., Pyatt, R. E., Schwartz, S., Shaffer, L. G., de Vries, B. B. A., Gusella, J. F., & Elsea, S. H.
- Affiliations
- Broad Institute (US)
- Virginia Commonwealth University (US)
- PerkinElmer (United States) (US)
- Boston Children's Hospital (US)
- Nationwide Children's Hospital (US)
- Massachusetts General Hospital (US)
- Brigham and Women's Hospital (US)
- Fudan University (CN)
- Birmingham Women's Hospital (GB)
- University Medical Center Utrecht (NL)
- Oasi Maria SS (IT)
- University of Michigan (US)
- University of Florida Health (US)
- Case Western Reserve University (US)
- LabCorp (United States) (US)
- Corresponding author
- Elsea, Sarah H.
- ORCID
- Talkowski, Michael E.
- Mullegama, Sureni V.
- Rosenfeld, Jill A.
- Shen, Yiping
- Repnikova, Elena A.
- Kathiresan, Sekar
- Ruderfer, Douglas M.
- Chiang, Colby
- Ernst, Carl
- Morton, Cynthia C.
- An, Yu
- Astbury, Caroline
- Lichtenbelt, Klaske D.
- Fichera, Marco
- Romano, Corrado
- Innis, Jeffrey W.
- Williams, Charles A.
- Bartholomew, Dennis
- Parikh, Aditi
- Zhang, Lilei
- Pyatt, Robert E.
- Schwartz, Stuart
- Shaffer, Lisa G.
- Gusella, James F.
- Elsea, Sarah H.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2011-10
- Volume
- 89
- Issue
- 4
- Pages
- 551-563
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3188839
- OpenAlex
- W2134256373
- Cited by
- 249
- References
- 50
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 11 · 2023: 7 · 2022: 14 · 2021: 13 · 2020: 13 · 2019: 14 · 2018: 42 · 2017: 13 · 2016: 16 · 2015: 16 · 2014: 24 · 2013: 28 · 2012: 25
- FWCI
- 15.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Institutes of Health (1rc2hl103010-01)
- National Heart, Lung, and Blood Institute (HL 102923, RC2HL102925, HL-102924, HL-102925, RC2HL102926, RC2HL102923, UC2HL102924, RC2HL-103010, UC2HL102925, HL 103010, UC2HL102923, UC2HL103010, RC2HL102924, UC2HL102926, HL-102926)
- National Institute of Mental Health (F32MH087123)
- National Institute of General Medical Sciences (GM061354, P01GM061354)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD065286, R21HD065286)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- MBD5, intellectual disability, epilepsy, autism spectrum disorder, haploinsufficiency, chromosomal microdeletion, translocation breakpoints, gene expression, missense mutations, genetic risk, chromatin remodeling, epigenetic regulation
- MeSH terms
- Adolescent, Adult, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 2, DNA-Binding Proteins, Epilepsy, Female, Humans, Male, Intellectual Disability, Phenotype, Syndrome, Case-Control Studies, Gene Deletion, CpG Islands, Epigenesis, Genetic
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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