Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. METHODS: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. RESULTS: We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic. CONCLUSIONS: Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.

Analysis of FUS Gene Mutation in Familial Amyotrophic Lateral Sclerosis within an Italian cohort / N. Ticozzi, V. Silani, A.L. Leclerc, P. Keagle, C. Gellera, A. Ratti, F. Taroni, T.J. Kwiatkowski, D.M. McKenna Yasek, P.C. Sapp, R.H. Brown, J.E. Landers. - In: NEUROLOGY. - ISSN 0028-3878. - 73:15(2009), pp. 1180-1185. [10.1212/WNL.0b013e3181bbff05]

Analysis of FUS Gene Mutation in Familial Amyotrophic Lateral Sclerosis within an Italian cohort

N. Ticozzi
Primo
;
V. Silani
Secondo
;
A. Ratti;
2009

Abstract

Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. METHODS: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. RESULTS: We identified 4 distinct missense mutations in 5 patients; 2 were novel. The mutations were not present in 376 healthy Italian controls and thus are likely to be pathogenic. CONCLUSIONS: Our results demonstrate that FUS mutations cause approximately 4% of familial amyotrophic lateral sclerosis cases in the Italian population.
superoxide-dismutase gene; exonic splicing enhancers; RNA-binding protein; TARDBP mutations; ALS; identification; TDP-43; TLS; oncoprotein; tool
Settore MED/26 - Neurologia
2009
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/71549
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