title: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
abstract: Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two frameshift mutations (52insC and 955delG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence of L1CAM at the cell surface. The two missense mutations (Tyr194Cys and Pro240Leu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.
authors.affiliation: Institut fur Humangenetik, Medizinische Universitat zu Lubeck, Germany.
authors.forename: S M
authors.initials: SM
authors.lastname: Gu
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: A
authors.initials: A
authors.lastname: Veske
authors.forename: H
authors.initials: H
authors.lastname: Enders
authors.forename: K
authors.initials: K
authors.lastname: Klunder
authors.forename: M
authors.initials: M
authors.lastname: Schlosser
authors.forename: W
authors.initials: W
authors.lastname: Engel
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D013788:Thalamus / Q000002:abnormalities; D013933:Thumb / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D014960:X Chromosome / Q000235:genetics*
chemical_list: D039841:Leukocyte L1 Antigen Complex; D019006:Neural Cell Adhesion Molecules