title: MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
abstract: MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. Three different L1CAM mutations were identified: a deletion removing part of the open reading frame and two point mutations resulting in amino acid substitutions. L1CAM, therefore, harbours mutations leading to either MASA syndrome or HSAS, and might be frequently implicated in X-linked mental retardation with or without hydrocephalus.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Vits
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: E
authors.initials: E
authors.lastname: Fransen
authors.forename: K
authors.initials: K
authors.lastname: De Boulle
authors.forename: E
authors.initials: E
authors.lastname: Reyniers
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: A
authors.initials: A
authors.lastname: Poustka
authors.forename: G
authors.initials: G
authors.lastname: Wilson
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
mesh_terms: D001037:Aphasia / Q000235:genetics*; D001483:Base Sequence; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005684:Gait; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D010264:Paraplegia / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D039841:Leukocyte L1 Antigen Complex