title: A novel L1CAM mutation with L1 spectrum disorders.
abstract: X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers.
authors.affiliation: Medical Biology and Genetic Department, Abant Izzet Baysal University, Duzce School of Medicine, Duzce, Turkey. fsilan@yahoo.com
authors.forename: Fatma
authors.initials: F
authors.lastname: Silan
authors.forename: Ismail
authors.initials: I
authors.lastname: Ozdemir
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D041321:Chromosomes, Human, X; D005260:Female; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D039842:Neural Cell Adhesion Molecule L1