Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy


Topcu M., AKYERLİ BOYLU C., Sayi A., Toruner G., Kocoglu S., Cimbis M., ...Daha Fazla

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.10, ss.77-81, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 1
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1038/sj.ejhg.5200745
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Sayfa Sayıları: ss.77-81

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.