Targeted next generation sequencing reveals novel and rare variants in Indian patients with Amyotrophic Lateral Sclerosis

In this study, we used targeted next-generation sequencing (NGS) to analyze 25 ALS-associated genes in a cohort of 154 Indian ALS patients. We identified known pathogenic mutations in SOD1 (G148D; H44R), TARDBP (M337V; N267S), DAO (R199Q) and ANG (K41I). In addition, we also identified 7 potentially pathogenic missense variants that have not been previously reported in ALS patients; this includes 3 novel variants (OPTN: K489E, DAO: E121K and SETX: L2163V) that are not reported in large population databases and 4 rare variants (CHMP2B: E45K, SQSTM1: G262R and P438L, ERBB4:R103H) with a minor allele frequency (MAF) of
Source: Neurobiology of Aging - Category: Neuroscience Authors: Source Type: research