Abstract
Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.
Original language | English (US) |
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Pages (from-to) | 77-81 |
Number of pages | 5 |
Journal | European Journal of Human Genetics |
Volume | 10 |
Issue number | 1 |
DOIs | |
State | Published - 2002 |
Externally published | Yes |
Keywords
- MECP2
- Rett syndrome
- Somatic mosaicism
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)