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Article

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

Human mutation - 1 Feb 2018

Mori Takayasu, Yousefzadeh Matthew J, Faridounnia Maryam, Chong Jessica X, Hisama Fuki M, Hudgins Louanne, Mercado Gabriela, Wade Erin A, Barghouthy Amira S, Lee Lin, Martin George M, Nickerson Deborah A, Bamshad Michael J, Niedernhofer Laura J, Oshima Junko

Abstract excerpt

Pathogenic variants in genes, which encode DNA repair and damage response proteins, result in a number of genomic instability syndromes with features of accelerated aging. ERCC4 (XPF) encodes a protein that forms a complex with ERCC1 and is required for the 5' incision during nucleotide excision repair. ERCC4 is also FANCQ, illustrating a critical role in interstrand crosslink repair. Pathogenic variants in this...

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Source

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Identifiers

PMID: 29105242
DOI: 10.1002/humu.23367
PMCID: PMC5762268

Genes

ERCC4
ERCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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