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Janel O. Johnson, Shannon M. Glynn, J. Raphael Gibbs, Mike A. Nalls, Mario Sabatelli, Gabriella Restagno, Vivian E. Drory, Adriano Chiò, Ekaterina Rogaeva, Bryan J. Traynor, Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis, Brain, Volume 137, Issue 12, December 2014, Page e311, https://doi.org/10.1093/brain/awu265
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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 family using an exome sequencing approach failed to identify this variant due to poor sequence coverage in this genomic region. The variant was not described as a human polymorphism in the Single Nucleotide Polymorphism (SNP) database (http://www.ncbi.nlm.nih.gov/SNP/, build 141) and was not found in 1158 control individuals of the Exome Sequencing Project (http://snp.gs.washington.edu/SeattleSeqAnnotation138/).
