title: Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
abstract: Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is the first report of HSCR with a mutant neural cell adhesion molecule. Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.
authors.affiliation: Department of Planning and Research, Osaka Medical Centre, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: M
authors.initials: M
authors.lastname: Goto
mesh_terms: D000483:Alleles; D000954:Antigens, Surface / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014960:X Chromosome
chemical_list: D000954:Antigens, Surface; D002135:Calcium-Binding Proteins; D039841:Leukocyte L1 Antigen Complex; D019006:Neural Cell Adhesion Molecules