A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
L1CAM is a member of the immunoglobulin gene superfamily of neural adhesion molecule. Abnormality of the L1CAM gene is associated with X-linked recessive form of congenital hydrocephalus (HSAS; hydrocephalus due to congenital stenosis of aqueduct of Sylvius) and some allelic disorders. Four new patients with congenital hydrocephalus consistent with the X-linked type were described. One of them had a novel mutation in the L1CAM gene.
Okamoto
N
N
Department of Planning and Research, Osaka Medical Center, Japan.
Wada
Y
Y
Kawabata
H
H
Ishikiriyama
S
S
Takahashi
S
S
D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D008040:Genetic Linkage; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007564:Japan; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014960:X Chromosome / Q000235:genetics*
D039841:Leukocyte L1 Antigen Complex; D019006:Neural Cell Adhesion Molecules; D004247:DNA