RT Journal Article
SR Electronic
T1 Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 103
OP 106
DO 10.1136/jmg.33.2.103
VO 33
IS 2
A1 S M Gu
A1 U Orth
A1 A Veske
A1 H Enders
A1 K Klunder
A1 M Schlosser
A1 W Engel
A1 E Schwinger
A1 A Gal
YR 1996
UL http://jmg.bmj.com/content/33/2/103.abstract
AB 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.