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

Am J Med Genet A. 2025 Jul;197(7):e64046. doi: 10.1002/ajmg.a.64046. Epub 2025 Mar 12.

Leanne de Kock^{1

2}, Macarena Nougues³, Madeline Couse⁴, Wendy Mears¹, Alison J Eaton^{5

6}, Kristin D Kernohan^{1

2

7}; Care4Rare Canada Consortium¹; Margarita Larralde³, Kym M Boycott^{1

2

8}

¹ Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
² University of Ottawa, Ottawa, Ontario, Canada.
³ Department of Dermatology, Deutcsches Hospital (Hospital Aleman de Buenos Aires), Buenos Aires, Argentina.
⁴ The Centre for Computational Medicine, The Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada.
⁵ Department of Medical Genetics, Stollery Children's Hospital, Edmonton, Alberta, Canada.
⁶ Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
⁷ Newborn Screening Ontario, Ottawa, Ontario, Canada.
⁸ Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

No abstract available

Keywords: PLCD1; deep sequencing; mosaicism; nevus trichilemmocysticus; trichilemmal cysts; whole genome sequencing.

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