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A specific mutation in PA-PLA1α causes abnormal hair growth.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

The enzyme PA-PLA1α is important for proper hair follicle development.

This review discusses the role of lysophosphatidic acid in skin physiology and pathology, highlighting its significance in processes like wound healing and hair follicle development, but reports no new clinical findings.

This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.