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ABSTRACT: According to studies in European, North American, Australian, and Asian populations, FUS gene mutations occur in 0.6-20.2% of the patients with familial amyotrophic lateral sclerosis (ALS) and 0.4-2.0% of sporadic ALS cases. In China, FUS mutations have been reported in several familial ALS pedigrees but not in sporadic ALS cases. Here, we screened for FUS mutations in Chinese patients with ALS.
We sequenced all of the 15 exons of FUS in 10 familial ALS pedigrees, exons 5, 6, 14, and 15 in 210 patients with sporadic ALS and 151 healthy controls. All patients were negative for SOD1, TARDBP, and ANG mutations.
A c.1562G>T (p.R521L) missense mutation was identified in one familial ALS proband and her asymptomatic daughter. A c.1562G>A (p.R521H) missense mutation was identified in two patients with sporadic ALS. Three synonymous mutations (c.453C>T, c.648C>T, and c.1464C>T) were detected among four patients with sporadic ALS, and a untranslated region variant (*14C>T) was identified in one familial ALS proband and one patient with sporadic ALS.
The frequency of FUS mutations is approximately 1.0% in our SOD1-, ANG-, TARDBP-mutation-negative sporadic ALS cohort and similar to that reported in previous studies from Asia in our familial ALS cohort. [Correction added on 31 May 2012, after first online publication: the gene FUS- was changed to ANG-]. Our findings provide an overview of the occurrence of FUS mutations in Chinese sporadic and familial ALS cases and highlight the importance of screening for FUS mutations in ALS patients of Chinese origin.
European Journal of Neurology 02/2012; 19(7):977-83. DOI:10.1111/j.1468-1331.2012.03662.x · 4.06 Impact Factor