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Article

Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria.

Pigment cell & melanoma research - 1 Jul 2020

Suganuma Mutsumi, Kono Michihiro, Yamanaka Masayoshi, Akiyama Masashi

Abstract excerpt

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon-intron boundary regions of ADAR1, but a previously unreported non-coding heterozygous variant, c.-60A>G, was found in the 5' untranslated region (5'UTR) of ADAR1...

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PMID: 31926050
DOI: 10.1111/pcmr.12863

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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