Identification and Characterization of Genes for Skin and Hair Disorders

This study aimed to genetically elucidate rare monogenic skin and hair disorders by identifying novel pathogenic variants and their underlying mechanisms. Researchers conducted Sanger and exome sequencing on patients with conditions such as Cole disease (COLED), epidermodysplasia verruciformis (EV), and monilethrix. They discovered new pathogenic variants in genes associated with these disorders, including a novel variant in ENPP1 for COLED, a TMC8 variant affecting splicing in EV, and a nonsense variant in KRT31 as a new cause of monilethrix. These findings expand the genetic understanding of these disorders and highlight the importance of genetic research in improving diagnostic and therapeutic strategies.