Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

    April 2022 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Fang Yang, Jiang Xue-xiang, Yuhao Zhu … Zhimiao Lin
    Studysummary This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
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    Research cited in this study 3

    1. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020
    2. Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice PLOS genetics · 2020
    3. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018