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Related Experiment Videos

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

Violaine Bourdon1, Christophe Philippe, Dominique Martin

  • 1Laboratory of Medical Genetics, EA 3441, CHU-Brabois, Vandoeuvre-Lès Nancy, France.

Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology
|October 8, 2003
PubMed
Summary

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Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are rare causes of mental retardation in males. Further evaluation is needed to confirm the pathogenicity of identified MECP2 missense mutations before genetic counseling.

Area of Science:

  • Genetics
  • Neuroscience

Background:

  • X-linked conditions, including Rett syndrome, are often caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene.
  • MECP2 gene mutations are associated with a range of phenotypes in females and males, from Rett syndrome to intellectual difficulties and neonatal encephalopathy.
  • Previous studies suggested MECP2 mutations could account for up to 2% of X-linked mental retardation in males.

Purpose of the Study:

  • To investigate the frequency and pathogenicity of MECP2 gene mutations in males with non-specific mental retardation.
  • To screen a cohort of mentally retarded males for alterations in the MECP2 gene.

Main Methods:

  • Screening of the entire coding region and flanking intronic sequences of the MECP2 gene using denaturing high-pressure liquid chromatography.
  • Analysis of 354 mentally retarded males negative for FRAXA CGG repeat expansion and one family with affected siblings.

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Main Results:

  • The study identified mainly silent polymorphisms and four sequence alterations of unknown significance in the MECP2 gene.
  • Three missense mutations (T197M, T228S, P376S) and one intronic variant (378-19delT) were found.
  • Familial investigations ruled out a pathogenic role for the intronic variant and two missense mutations (T228S, P376S).

Conclusions:

  • MECP2 mutations are less common causes of mental retardation in males than previously suggested.
  • The pathogenicity of identified MECP2 missense mutations in males requires careful evaluation before genetic counseling.
  • Further research is needed to fully understand the role of MECP2 in male intellectual disability.