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Article

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.

American journal of human genetics - 2 May 2024

Saito Sonoko, Saito Yuki, Sato Showbu, Aoki Satomi, Fujita Harumi, Ito Yoshihiro, Ono Noriko, Funakoshi Takeru, Kawai Tomoko, Suzuki Hisato, Sasaki Takashi, Tanaka Tomoyo, Inoie Masukazu, Hata Kenichiro, Kataoka Keisuke, Kosaki Kenjiro, Amagai Masayuki, Nakabayashi Kazuhiko, Kubo Akiharu

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic and rare skin diseases.

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Identifiers

PMID: 38653249
DOI: 10.1016/j.ajhg.2024.03.017
PMCID: PMC11080608

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