Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing.

Our results highlighted that the advent of NGS has facilitated high-throughput screening for the identification of disease-causing mutations with high accuracy, stability, and specificity. Five novel genetic mutations were found in five unrelated families, thereby extending the pathogenic mutational spectrum of in DSH and providing new insights into this complex genetic disorder.