A Mosaic Hotspot PLCD1 Variant, Detectable in Blood-Derived DNA, Associated With Nevus Trichilemmocysticus

    March 2025 in “ American Journal of Medical Genetics Part A ”
    Leanne de Kock, M.-C. Nougues, Madeline Couse … Kym M. Boycott
    Studysummary In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
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    Research cited in this study 1

    1. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2019