A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus

Jpn J Hum Genet. 1996 Dec;41(4):431-7. doi: 10.1007/BF01876336.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • DNA / analysis
  • DNA Mutational Analysis
  • Exons
  • Frameshift Mutation
  • Genetic Linkage
  • Humans
  • Hydrocephalus / genetics*
  • Japan
  • Leukocyte L1 Antigen Complex
  • Male
  • Mutation*
  • Neural Cell Adhesion Molecules / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • X Chromosome / genetics*

Substances

  • Leukocyte L1 Antigen Complex
  • Neural Cell Adhesion Molecules
  • DNA