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Article

A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.

Genetics research - 1 Jan 2025

Khorrami Mehdi, Khorram Erfan, Tabatabaiefar Mohammad Amin, Yaghini Omid, Iravani Omid, Kheirollahi Aida, Kheirollahi Majid, Yazdani Vida, Pakbaz Mitra

Abstract excerpt

Background: Cockayne syndrome (CS) is a rare, autosomal-recessive, multisystem disorder characterized by microcephaly, failure to thrive, photosensitivity, leukodystrophy, muscle contracture, and intellectual disability. It is caused by deleterious variant in the ERCC6 and ERCC8 genes, which are involved in the transcription-coupled nucleotide excision repair system. According to severity and age of onset, CS is...

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Source

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Identifiers

PMID: 41459025
DOI: 10.1155/genr/7396691
PMCID: PMC12740455

Genes

CS
ERCC6
ERCC8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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A Truncating Variant in the ERCC6 Gene With Three Different Phenotypes: Significant Effects of Modifier Genes.PMID 41459025Read ↗

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Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.Semantic proximity Read ↗

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.Semantic proximity Read ↗

Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome.Semantic proximity Read ↗

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.Semantic proximity Read ↗

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