Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
EUROPEAN JOURNAL OF HUMAN GENETICS, vol.10, no.1, pp.77-81, 2002 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 10 Issue: 1
- Publication Date: 2002
- Doi Number: 10.1038/sj.ejhg.5200745
- Journal Name: EUROPEAN JOURNAL OF HUMAN GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.77-81
- Open Archive Collection: AVESIS Open Access Collection
- Hacettepe University Affiliated: No
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.