Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

This study identifies a novel compound heterozygous variant in the LIPH gene, c.530T>G (p.Leu177Arg), in a Chinese patient with autosomal recessive woolly hair and hypotrichosis (ARWH). This variant, along with a known variant c.742C>A (p.His248Asn), disrupts the secretion function of the enzyme PA-PLA1α, essential for hair follicle development, leading to a complete loss of its hydrolytic function and impaired hair growth. The research highlights a previously unrecognized pathogenic mechanism in ARWH and underscores the importance of LIPH variants in diagnosing ARWH in Chinese patients. The study also notes genetic similarities between Chinese and Japanese populations regarding ARWH, but its conclusions are based on a single patient, indicating the need for further research with larger cohorts.