Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
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.
Du
J S
JS
University of Cambridge Department of Medicine, Addenbrooke's Hospital, United Kingdom.
Bason
L
L
Woffendin
H
H
Zackai
E
E
Kenwrick
S
S
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
D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins