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Brain Dev. 2007 Jan;29(1):47-50. Epub 2006 Jul 17.

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

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Service of Medical Genetics and Neuropediatric Unit, Geneva University Hospitals, 1 rue Michel-Servet 1211, Geneva Switzerland.


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.

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