title: Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.
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.
authors.affiliation: Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: Evans
authors.forename: H L
authors.initials: HL
authors.lastname: Archer
authors.forename: S D
authors.initials: SD
authors.lastname: Whatley
authors.forename: A
authors.initials: A
authors.lastname: Clarke
mesh_terms: D001483:Base Sequence; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D008969:Molecular Sequence Data; D009030:Mosaicism; D009679:Nuclear Family; D010375:Pedigree; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D051783:Methyl-CpG-Binding Protein 2