Image

    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

    May 2025 in “ Frontiers in Genetics ”
    Xinyue Zhang, Kexin Guo, J.‐W. Liu … Xue Zhang
    Studysummary 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.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on frontiersin.org →
    Discuss this study in the Community →

    Research cited in this study 8

    1. Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient Frontiers in medicine · 2024
    2. Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2021
    3. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    4. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014
    5. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011
    6. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    7. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    8. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006