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Nine novel L1 CAM mutations in families with X-linked hydrocephalus

✍ Scribed by John R. MacFarlane; Jian-Sheng Du; Miriam E. Pepys; Simon Ramsden; Dian Donnai; Ruth Charlton; Christine Garrett; John Tolmie; John R. W. Yates; Caroline Berry; David Goudie; Anne Moncla; Peter Lunt; Shirley Hodgson; Monique Jouet; Susan Kenwrick

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 226 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:6<512::aid-humu3>3.0.co;2-3

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✦ Synopsis

Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual families. Here, we report nine novel mutations in L1 in 10 X-linked hydrocephalus families. Four mutations truncate the L1 protein and eliminate cell surface expression, and two would produce abnormal L1 through alteration of RNA processing. A further two of these mutations are small in-frame deletions that have occurred through a mechanism involving tandem repeated sequences. Together with a single missense mutation, these latter examples contribute to the growing number of existing mutations that affect short regions of the L1 protein that may have particular functional significance.

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