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

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

doi:10.1016/j.jns.2010.03.030

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

Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, Leonardo Salviati, Elisabetta Lapi, Maria Teresa Divizia, Livia Garavelli, Gianluca Occhi, Giovanni Vazza, Maria Luisa Mostacciuolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	124-126
Number of pages	3
Journal	Journal of the Neurological Sciences
Volume	294
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2010.03.030
Publication status	Published - Jul 15 2010

Keywords

Hydrocephalus
L1CAM gene
Mutation screening
Spastic paraplegia

ASJC Scopus subject areas

Clinical Neurology
Neurology
Medicine(all)

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Novel mutations in the L1CAM gene support the complexity of L1 syndrome. / Bertolin, Cinzia; Boaretto, Francesca; Barbon, Giovanni; Salviati, Leonardo; Lapi, Elisabetta; Divizia, Maria Teresa; Garavelli, Livia; Occhi, Gianluca; Vazza, Giovanni; Mostacciuolo, Maria Luisa.

In: Journal of the Neurological Sciences, Vol. 294, No. 1-2, 15.07.2010, p. 124-126.

Research output: Contribution to journal › Article › peer-review

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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.",

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AU - Bertolin, Cinzia

AU - Boaretto, Francesca

AU - Barbon, Giovanni

AU - Salviati, Leonardo

AU - Lapi, Elisabetta

AU - Divizia, Maria Teresa

AU - Garavelli, Livia

AU - Occhi, Gianluca

AU - Vazza, Giovanni

AU - Mostacciuolo, Maria Luisa

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AB - 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.

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