Sonoko Saito, Yuki Saito, Showbu Sato, Satomi Aoki, Harumi Fujita, Yoshihiro Ito, Noriko Ono, Takeru Funakoshi, Tomoko Kawai, Hisato Suzuki, Takashi Sasaki, Tomoyo Tanaka, Masukazu Inoie, Kenichiro Hata, Keisuke Kataoka, Kenjiro Kosaki, Masayuki Amagai, Kazuhiko Nakabayashi, Akiharu Kubo
Porokeratosis is a clonal keratinization disorder characterized by solitary, linearly arranged, or generally distributed multiple skin lesions. Previous studies showed that genetic alterations in MVK, PMVK, MVD, or FDPS-genes in the mevalonate pathway-cause hereditary porokeratosis, with skin lesions harboring germline and lesion-specific somatic variants on opposite alleles. Here, we identified non-hereditary porokeratosis associated with epigenetic silencing of FDFT1, another gene in the mevalonate pathway...
April 10, 2024: American Journal of Human Genetics