{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["111(5)"],"submitter":["Saito S"],"pubmed_abstract":["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. Skin lesions of the generalized form had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis identified in this study. Conversely, lesions of the solitary or linearly arranged localized form had somatic bi-"],"journal":["American journal of human genetics"],"pagination":["896-912"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11080608"],"repository":["biostudies-literature"],"pubmed_title":["Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis."],"pmcid":["PMC11080608"],"pubmed_authors":["Saito S","Kubo A","Saito Y","Aoki S","Ito Y","Nakabayashi K","Kataoka K","Fujita H","Kawai T","Kosaki K","Sasaki T","Suzuki H","Ono N","Sato S","Amagai M","Tanaka T","Hata K","Inoie M","Funakoshi T"],"additional_accession":[]},"is_claimable":false,"name":"Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.","description":"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. Skin lesions of the generalized form had germline and lesion-specific somatic variants on opposite alleles in FDFT1, representing FDFT1-associated hereditary porokeratosis identified in this study. Conversely, lesions of the solitary or linearly arranged localized form had somatic bi-","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2026-07-16T03:07:36.754Z","creation":"2025-04-06T09:33:18.837Z"},"accession":"S-EPMC11080608","cross_references":{"pubmed":["38653249"],"doi":["10.1016/j.ajhg.2024.03.017"]}}