Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
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.
Okamoto
Nobuhiko
N
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.
Del Maestro
Rolando
R
Brain Tumor Research Center, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Valero
Rebeca
R
Genetics Section, Hospital Sant Joan de Deu, Barcelona, Spain.
Monros
Eugenia
E
Genetics Section, Hospital Sant Joan de Deu, Barcelona, Spain.
Poo
Pilar
P
Neurology Section, Hospital Sant Joan de Deu, Barcelona, Spain.
Kanemura
Yonehiro
Y
Tissue Engineering Research Center, National Institute of Advanced Industrial Science and Technology, Amagasaki, Hyogo, Japan.|Institute for Clinical Research, Osaka National Hospital, Osaka, Japan.
Yamasaki
Mami
M
Institute for Clinical Research, Osaka National Hospital, Osaka, Japan.|Department of Neurosurgery, Osaka National Hospital, Osaka, Japan.
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
D039842:Neural Cell Adhesion Molecule L1