Distinct de novo deletions in a brother-sister pair with RTT: a case report

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):859-63. doi: 10.1002/ajmg.b.31222. Epub 2011 Aug 2.

Abstract

Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein2 (MeCP2), is a leading cause of mental retardation in females. Majority of cases are sporadic (99%) but some familial cases have also been observed. We describe a familial study with a brother-sister pair with symptoms of RTT and exhibiting distinct deletions in the MECP2. The non-shared de novo deletion in the two sibs provides important insights into the disease etiology, especially for male sibs showing varied phenotypes as compared to the classical ones seen in the females.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis
  • Female
  • Gene Dosage / genetics
  • Gene Rearrangement / genetics
  • Humans
  • Infant
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics
  • Phenotype
  • Rett Syndrome / genetics*
  • Sequence Deletion / genetics*
  • Siblings*
  • Young Adult

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2