title: Hydrocephalus and Hirschsprung's disease 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. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. We suspect that decreased L1CAM may be a modifying factor in the development of HSCR.
authors.affiliation: Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. okamoto@osaka.email.ne.jp.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Brain Tumor Research Center, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
authors.forename: Rolando
authors.initials: R
authors.lastname: Del Maestro
authors.affiliation: Genetics Section, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Rebeca
authors.initials: R
authors.lastname: Valero
authors.affiliation: Genetics Section, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Monros
authors.affiliation: Neurology Section, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Poo
authors.affiliation: Tissue Engineering Research Center, National Institute of Advanced Industrial Science and Technology, Amagasaki, Hyogo, Japan.|Institute for Clinical Research, Osaka National Hospital, Osaka, Japan.
authors.forename: Yonehiro
authors.initials: Y
authors.lastname: Kanemura
authors.affiliation: Institute for Clinical Research, Osaka National Hospital, Osaka, Japan.|Department of Neurosurgery, Osaka National Hospital, Osaka, Japan.
authors.forename: Mami
authors.initials: M
authors.lastname: Yamasaki
mesh_terms: D000293:Adolescent; D000483:Alleles; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007438:Introns; D008297:Male; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D010375:Pedigree
chemical_list: D039842:Neural Cell Adhesion Molecule L1