Complete defect in PA-PLA₁α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous <i>LIPH</i> variant study in a Chinese pedigree.

ABSTRACT: Autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare inherited hair disease. In this study, we report a 31-year-old Chinese female with the characteristic clinical features of woolly hair and hypotrichosis. Through whole-exome sequencing (WES), we identified a novel missense variant (NM_139248.3: c.530T>G: p.Leu177Arg) and a previously reported missense variant (c.742C>A: p.His248Asn) of LIPH in the patient. TA cloning demonstrated that these variants were located on different alleles, supporting an autosomal recessive inheritance pattern. In silico tools predicted the novel variant to be disease-causing, likely reducing the stability of PA-PLA₁α, the protein encoded by LIPH. PA-PLA₁α, a member of the AB hydrolase superfamily and the lip

SUBMITTER: Zhang X 

PROVIDER: S-EPMC12098026 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature