Article Text

PDF

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
  1. S M Gu,
  2. U Orth,
  3. A Veske,
  4. H Enders,
  5. K Klunder,
  6. M Schlosser,
  7. W Engel,
  8. E Schwinger,
  9. A Gal
  1. Institut fur Humangenetik, Medizinische Universitat zu Lubeck, Germany.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.