Germline mosaicism for a MECP2 mutation in a man with two Rett daughters

Clin Genet. 2006 Oct;70(4):336-8. doi: 10.1111/j.1399-0004.2006.00691.x.

Abstract

Rett syndrome is a severe neurodevelopmental disorder that is caused by mutations in the X-linked gene, methyl-CpG binding protein 2 (MECP2). The majority of cases are sporadic, but rarely germline mosaicism can lead to familial cases. Here, we report the first case where germline mosaicism for a MECP2 mutation has been shown in a man. He has two affected daughters who are half sisters, and both have the c.808delC mutation. We show that this mutation is present at a low level in DNA extracted from the patient's semen. This case has implications for genetic counseling, and pre-natal testing should be offered for the partners of men who have a daughter with Rett syndrome.

Publication types

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

MeSH terms

  • Base Sequence
  • Germ-Line Mutation*
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Molecular Sequence Data
  • Mosaicism*
  • Nuclear Family
  • Pedigree
  • Rett Syndrome / genetics*

Substances

  • Methyl-CpG-Binding Protein 2