Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
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.
Bertolin
Cinzia
C
Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.
Boaretto
Francesca
F
Barbon
Giovanni
G
Salviati
Leonardo
L
Lapi
Elisabetta
E
Divizia
Maria Teresa
MT
Garavelli
Livia
L
Occhi
Gianluca
G
Vazza
Giovanni
G
Mostacciuolo
Maria Luisa
ML
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
D039842:Neural Cell Adhesion Molecule L1