Article
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
The Japanese journal of human genetics - 1 Dec 1996
Okamoto N, Wada Y, Kawabata H, Ishikiriyama S, Takahashi S
Abstract excerpt
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...
Topics
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Exons
- Frameshift Mutation
- Genetic Linkage
- Humans
- Hydrocephalus
- Japan
- Leukocyte L1 Antigen Complex
- Male
- Mutation
- Neural Cell Adhesion Molecules
- Pedigree
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- X Chromosome