Deep intronic founder mutations identified in the <i>ERCC4</i>/<i>XPF</i> gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.

ABSTRACT: Xeroderma pigmentosum (XP) is a genodermatosis defined by cutaneous photosensitivity with an increased risk of skin tumors because of DNA repair deficiency. The worldwide prevalence of XP is ~1 to 4 in million, with higher incidence in some countries and regions including Japan (1 in 22,000) and North Africa due to founder mutations and a high degree of consanguinity. Among XP, the complementation group F (XP-F), is a rare form (1% of worldwide XP); however, this is underdiagnosed, because the ERCC4/XPF gene is essential for fetal development and most of previously reported ERCC4/XPF pathogenic variants are hypomorphs causing relatively mild phenotypes. From the largest Japanese XP cohort study, we report 17 XP-F cases bearing two pathogenic variants, both ident

SUBMITTER: Senju C 

PROVIDER: S-EPMC10318981 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature