title: Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
abstract: X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a correlation between the number of clinical features typical of L1 syndrome and the chance to find causative mutation. Our findings support that L1CAM mutations are associated with widely heterogeneous phenotypes, however the occurrence of several clinical features remains the best criterion for planning molecular testing both in familial and apparently sporadic cases.
authors.affiliation: Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Bertolin
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.forename: Giovanni
authors.initials: G
authors.lastname: Barbon
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Divizia
authors.forename: Livia
authors.initials: L
authors.lastname: Garavelli
authors.forename: Gianluca
authors.initials: G
authors.lastname: Occhi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Vazza
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Mostacciuolo
mesh_terms: D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities; D055815:Young Adult
chemical_list: D039842:Neural Cell Adhesion Molecule L1