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Titles listMECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Titles listMECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother
Scientific Article
unige:8702 
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother |
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| Authors | ||
| Published in | Brain & Development. 2007, vol. 29, no. 1, p. 47-50 | |
| Abstract | 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. | |
| Keywords | 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 | |
| Identifiers | PMID: 16844334 | |
| Full text |
Article - Limited access to UNIGE Other version: http://www.sciencedirect.com/science/article/pii/S0387760406001355 |
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| Structures | ||
| Citation (ISO format) | 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. https://archive-ouverte.unige.ch/unige:8702 |
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