title: Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
abstract: X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM). In this report, we describe identification of a mutation in an isolated case of hydrocephalus with adducted thumbs. Tracing the origin of the mutation within the family showed a degree of somatic mosaicism in the asymptomatic maternal grandfather of the propositus. This report highlights the need to take mosaicism into account when counselling relatives of affected individuals.
authors.affiliation: University of Cambridge Department of Medicine, Addenbrooke's Hospital, United Kingdom.
authors.forename: J S
authors.initials: JS
authors.lastname: Du
authors.forename: L
authors.initials: L
authors.lastname: Bason
authors.forename: H
authors.initials: H
authors.lastname: Woffendin
authors.forename: E
authors.initials: E
authors.lastname: Zackai
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
mesh_terms: D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009030:Mosaicism; D016296:Mutagenesis; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins