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

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

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.10, no.1, pp.77-81, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10 Issue: 1
  • Publication Date: 2002
  • Doi Number: 10.1038/sj.ejhg.5200745
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.77-81
  • Keywords: Rett syndrome, MECP2, somatic mosaicism, MALES
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No


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.