Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

The study identified mutations in the desmoglein 4 gene (DSG4) as the cause of localized autosomal recessive hypotrichosis (LAH) in humans, mice, and rats, characterized by fragile, sparse hair on the scalp, trunk, and extremities. In Pakistani families, an in-frame deletion mutation (EX5_8del) in DSG4 was found, affecting critical extracellular domains necessary for cell adhesion. Similar mutations were identified in mouse and rat models, highlighting the role of desmosomal cadherins in hair follicle development and disease.