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Article scientifique
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

Publié dansBrain & development, vol. 29, no. 1, p. 47-50
Date de publication2007
Résumé

Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388X) in the MECP2 gene. The presence of a skewed X inactivation in the mother provides a possible explanation for the absence of penetrance. The finding of a MECP2 mutation in an unaffected female complicates genetic counseling and further confirms that it is essential to look for mutations in the mothers of all patients with MECP2 mutations.

Mots-clés
  • Adult
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Gene Deletion
  • Gene Frequency/genetics
  • Genetic Diseases, X-Linked/ genetics
  • Genetic Predisposition to Disease/ genetics
  • Genetic Testing
  • Heterozygote
  • Humans
  • Inheritance Patterns/ genetics
  • Male
  • Methyl-CpG-Binding Protein 2/ genetics
  • Mothers
  • Mutation/ genetics
  • Penetrance
  • Phenotype
  • Rett Syndrome/diagnosis/ genetics
  • X Chromosome Inactivation/genetics
Citation (format ISO)
DAYER, Alexandre et al. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. In: Brain & development, 2007, vol. 29, n° 1, p. 47–50. doi: 10.1016/j.braindev.2006.06.001
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ISSN du journal0387-7604
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