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Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.

Pediatric neurology - 1 Sept 2015

Cui Yun-Pu, Chen Yi-Yu, Wang Xue-Mei, Wang Xin-Li, Nan Xu, Zhao Hongshan

Abstract excerpt

BACKGROUND: Cockayne syndrome (MIM #133540, Cockayne syndrome B; 216400, Cockayne syndrome A) is a rare autosomal recessive inherited disease in which the characteristic symptoms are premature aging, cachectic dwarfism, lack of subcutaneous fat, neurological alterations, light sensitivity, and failure to thrive. The mutated gene responsible for this syndrome has been identified as usually either CSA (CKN1, ERCC8)...

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Source

Identifiers

PMID: 26173784
DOI: 10.1016/j.pediatrneurol.2015.06.006

Genes

ERCC8
ERCC6

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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