Novel mutations in the L1CAM gene support the complexity of L1 syndrome

作者：Bertolin Cinzia; Boaretto Francesca; Barbon Giovanni; Salviati Leonardo; Lapi Elisabetta; Divizia Maria Teresa; Garavelli Livia; Occhi Gianluca; Vazza Giovanni; Mostacciuolo Maria Luisa^*

来源：Journal of the Neurological Sciences, 2010, 294(1-2): 124-126.

DOI：10.1016/j.jns.2010.03.030

• Hydrocephalus
• L1CAM gene
• Mutation screening
• Spastic paraplegia

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.

• 出版日期2010-7-15