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Cited by 37Genetics and Neurodevelopmental DisordersGenomics and Rare DiseasesDown syndrome and intellectual disability research

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

Gomot, Marie, Gendrot, Chantal, Verloes, Alain, Raynaud, Martine, David, Albert, Yntema, Helger G., Dessay, Sabine, Kalscheuer, Vera +8 more·2003·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.20247
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Abstract

Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syndrome (RTT), an X‐linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to be mutated in the Methyl–CpG binding protein 2 gene (MECP2) that maps at Xq28. Some mentally retarded males related to RTT females carry the same mutation. Several MRX families mapping to Xq28 were subsequently tested for MECP2 and a causative mutation was discovered in three families, suggesting that it could be one of the main genes involved in MRX. We report here the corresponding phenotypes in these three families of increasing severity. In family 1, an in‐frame deletion ΔP387‐M466 was found in the 3′ region. The patients had severe to mild non‐progressive MR, with better motor skills than verbal abilities. In family 2, an Arg to Trp substitution (R167W) was found between the transcription repression domain (TRD) and the methyl binding domain (MBD). The patients had brisk reflexes and essential tremor with mild and non‐progressive MR, poor motor co‐ordination and written language difficulties. In the third family (MRX16), a Glu to Gly substitution (E137G) was found in the MBD. The patients had manifestations similar to those of family 2, but MR was mild to moderate, speech articulation was poor and some had verbal stereotypies. Regression of language skills was suspected in three patients. Phenotype–genotype correlation could thus be suspected and is discussed in these three families. © 2003 Wiley‐Liss, Inc.

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  • Rare mutations in the gene encoding MeCP2 cause Rett syndrome, mental retardation, and increased aggression.

    “For example, rare mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2), a chromatin-associated protein involved in transcription regulation, cause Rett syndrome, mental retardation, and increased aggression [19].”

    From An integrated analysis of genes and functional pathways for aggression in human and rodent models (2019) · cites this paper as [19]

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Authors
Gomot, M., Gendrot, C., Verloes, A., Raynaud, M., David, A., Yntema, H. G., Dessay, S., Kalscheuer, V., Frints, S., Couvert, P., Briault, S., Blesson, S., Toutain, A., Chelly, J., Desportes, V., & Moraine, C.
Affiliations
  • Inserm (FR)
  • Centre Hospitalier Universitaire de Nantes (FR)
  • Radboud University Nijmegen (NL)
  • Max Planck Institute for Molecular Genetics (DE)
  • Centre National de la Recherche Scientifique (FR)
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2003-10-28
Volume
123A
Issue
2
Pages
129-139
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.20247
OpenAlex
W2158180123
Cited by
37
References
44
Citations by year
2025: 1 · 2024: 2 · 2022: 1 · 2021: 3 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 1 · 2013: 1 · 2012: 2
FWCI
1.59
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
  • HAL (submittedVersion)
  • Max Planck Institute for Plasma Physics (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
Funders
  • Institut National de la Santé et de la Recherche Médicale
  • Fondation pour la Recherche Médicale
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
MeCP2, X-linked intellectual disability, Rett syndrome, genotype-phenotype correlation, Xq28, in-frame deletion, essential tremor, language regression, multiplex families
MeSH terms
Adult, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Female, Genotype, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Repressor Proteins, Speech Disorders, Rett Syndrome, X-Linked Intellectual Disability, Gene Components, Methyl-CpG-Binding Protein 2

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