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Am J Med Genet. 1998 Jan 13;75(2):200-2.

Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.

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University of Cambridge Department of Medicine, Addenbrooke's Hospital, United Kingdom.


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.

[Indexed for MEDLINE]

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