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L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease

✍ Scribed by Sha-Ron Jackson; Yigit S. Guner; Russell Woo; Linda M. Randolph; Henri Ford; Cathy E. Shin

Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
171 KB
Volume
25
Category
Article
ISSN
0179-0358

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Eight novel mutations were identified in the gene encoding L1CAM, a neural cell adhesion protein, in patients/families with Xlinked hydrocephalus (XHC) providing additional evidence for extreme allelic heterogeneity of the trait. The two nonsense mutations (Gln440Ter and Gln1042Ter) result most like