Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Sir, A recent study by Bannwarth and colleagues has shown that variation in the CHCHD10 gene is a cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) (Bannwarth et al. , 2014). The study identified a c.176C > T (p.Ser59Leu, NM_213720.1) missense mutation in a multi-generational kindred. In the present study, we performed genome sequencing of four affected individuals from a large ALS family (USALS#5). This identified a G to T transversion at position c.44 (chr22:24,109,778, hg19) that segregated with disease within this pedigree and leads to a p.R15L amino acid change in exon two of the CHCHD10 mitochondrial protein. Previous attempts to identify the causative mutation in this …