Novel D323G Mutation of DSG4 Gene in a Girl with Localized Autosomal Recessive Hypotrichosis Clinically Overlapped with Monilethrix

The study investigated a 2-year-old Chinese girl with localized autosomal recessive hypotrichosis (LAH) overlapping with monilethrix, a condition characterized by short, sparse, and brittle hair. The research identified a novel homozygous mutation, A1103G, in the DSG4 gene, which led to the substitution of aspartic acid with glycine (D323G). This mutation was linked to reduced DSG4 expression in the scalp epidermis, contributing to the hair defects observed. The findings highlighted the mutation's role in the disease's development, as evidenced by various microscopy techniques revealing structural abnormalities in the hair and hair follicles.