title: The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
abstract: Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasias, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Fransen
authors.forename: L
authors.initials: L
authors.lastname: Vits
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D013577:Syndrome
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins