A monoallelic two-hit mechanism in PLCD1 explains the genetic pathogenesis of hereditary trichilemmal cyst formation

Trichilemmal cysts are common hair follicle-derived intradermal cysts. The trait shows an autosomal dominant mode of transmission with incomplete penetrance. Here, we describe the pathogenetic mechanism for the development of hereditary trichilemmal cysts. By whole exome sequencing of DNA from blood samples of five affected individuals and subsequent Sanger sequencing of a family cohort including 35 affected individuals, we identified a combination of the Phospholipase C Delta 1 (PLCD1) germline variants c.903A>G, p.(Pro301Pro) and c.1379C>T, p.(Ser460Leu) as a high-risk factor for trichilemmal cyst development.

Source: Journal of Investigative Dermatology - May 9, 2019 Category: Dermatology Authors: Steffen H örer, Slaheddine Marrakchi, Franz P.W. Radner, Gerd Zolles, Lisa Heinz, Thomas O. Eichmann, Cristina Has, Pavel Salavei, Nadia Mahfoud, Hamida Turki, Andreas D. Zimmer, Judith Fischer Tags: Original Article Source Type: research