Many genes have been found to be pathogenic for amyotrophic lateral sclerosis (ALS). Among them, the coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) has been reported to play a controversial role in ALS. We examined the coding region of this gene in 424 unrelated Chinese sporadic ALS subjects, 73 familial ALS subjects, and 204 healthy controls using a polymerase chain reaction-direct sequencing strategy. Two types of variants were identified, and of these, one variant (g.877C>T, p.P23L) was identified to be damaging, and the other one was (g.648G>A) in intron. The mutation (g.877C>T, p.P23L) has been previously reported in a Chinese frontotemporal dementia patient. Our study is the first to report the clinical heterogeneity of specific mutations in CHCHD10 in ALS in an Asian population and to report the possible new mutation hotspot. Our findings support the major role of CHCHD10 in the frontotemporal dementia-amyotrophic lateral sclerosis disease spectrum and stress the importance of mitochondrial abnormalities in the pathogenesis of diseases in Asian cohorts.
Keywords: Amyotrophic lateral sclerosis; CHCHD10 mutation; Clinical heterogeneity; Genetics.
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