Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.10, sa.1, ss.77-81, 2002 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 10 Sayı: 1
- Basım Tarihi: 2002
- Doi Numarası: 10.1038/sj.ejhg.5200745
- Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.77-81
- Anahtar Kelimeler: Rett syndrome, MECP2, somatic mosaicism, MALES
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır
Özet
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.