Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3038498 | Brain and Development | 2007 | 4 Pages |
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.
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Authors
Alexandre G. Dayer, Armand Bottani, Isabelle Bouchardy, Joel Fluss, Stylianos E. Antonarakis, Charles-Antoine Haenggeli, Michael A. Morris,