title: A new mutation of the L1CAM gene in an X-linked hydrocephalus family.
abstract: X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM, located at chromosome region Xq28, have been reported, 16 of which were detected in families with X-linked hydrocephalus. We sequenced the coding region of the L1CAM gene of patients from two different families with X-linked hydrocephalus and found a novel mutation at nucleotide residue 1963 in one family. This mutation from adenine to guanine results in an amino acid change from lysine to glutamic acid at residue 655 of the L1CAM protein, which belongs to the fibronectin type III domain. We report another method of the rapid identification of the mutation based on the polymerase chain reaction. This mutation was not detected among 70 X chromosomes from a healthy population. Ours is the first report demonstrating this gene mutation in X-linked hydrocephalus in an Asian population. Our findings further emphasize the evolving genotypic heterogeneity in X-linked hydrocephalus.
authors.affiliation: Department of Neurosurgery, Osaka University Medical School, Suita, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Izumoto
authors.forename: M
authors.initials: M
authors.lastname: Yamasaki
authors.forename: N
authors.initials: N
authors.lastname: Arita
authors.forename: S
authors.initials: S
authors.lastname: Hiraga
authors.forename: T
authors.initials: T
authors.lastname: Ohnishi
authors.forename: K
authors.initials: K
authors.lastname: Fujitani
authors.forename: S
authors.initials: S
authors.lastname: Sakoda
authors.forename: T
authors.initials: T
authors.lastname: Hayakawa
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011859:Radiography; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D039841:Leukocyte L1 Antigen Complex; D019006:Neural Cell Adhesion Molecules