Hypotrichosis 14: Novel Variants of the LSS Gene in Five Chinese Families and Insights from Literature Review

    July 2025 in “ Human Genomics ”
    Yujing Zhang, Mengxi Zhao, Xiangqian Li … Cheng Zhou
    Studysummary This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
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    Research cited in this study 7

    1. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022
    2. Treatment of Hereditary Hypotrichosis Simplex of the Scalp with Oral Minoxidil and Growth Factors Dermatologic Therapy · 2022
    3. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2022
    4. Four Hypotrichosis Families With Mutations in the Gene LSS Presenting With and Without Neurodevelopmental Phenotypes American Journal of Medical Genetics Part A · 2021
    5. Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice PLOS genetics · 2020
    6. Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders Experimental Dermatology · 2019
    7. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018

    Related research 2

    1. New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report BMC Medical Genetics · 2017
    2. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004