Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1996 Feb;33(2):103-6.
doi: 10.1136/jmg.33.2.103.

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus

S M Gu  1 , U Orth, A Veske, H Enders, K Klunder, M Schlosser, W Engel, E Schwinger, A Gal
Affiliations
Case Reports

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus

S M Gu et al. J Med Genet. 1996 Feb.

Abstract

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 955delG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence of L1CAM at the cell surface. The two missense mutations (Tyr194Cys and Pro240Leu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.

PubMed Disclaimer

References

    1. Nature. 1988 Aug 25;334(6184):701-3 - PubMed
    1. J Cell Biol. 1991 Mar;112(5):1017-29 - PubMed
    1. Am J Hum Genet. 1992 Aug;51(2):307-15 - PubMed
    1. Genomics. 1992 Oct;14(2):508-10 - PubMed
    1. Nat Genet. 1992 Oct;2(2):107-12 - PubMed

Publication types

MeSH terms

Substances