Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
AUTOR(ES)
Gu, S M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051833Documentos Relacionados
- A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
- The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
- Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
- Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.
- Sex linked hydrocephalus.