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Article

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Scientific reports - 20 Oct 2017

Wang Xiaozhu, Huang Yu, Yan Ming, Li Jiuwei, Ding Changhong, Jin Hong, Fang Fang, Yang Yanling, Wu Baiyan, Chen Dafang

Abstract excerpt

There are two genetics complementary groups Cockayne syndrome type A and B (CS-A and CS-B OMIM 216400, 133540), which is a rare autosomal recessive segmental progeroid syndrome. Homozygous or compound heterozygous mutations in the excision repair cross-complementation group 8 gene (ERCC8) result in CS-A, and mutations in ERCC6 result in CS-B. Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome....

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Source

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Identifiers

PMID: 29057985
DOI: 10.1038/s41598-017-14034-3
PMCID: PMC5651726

Genes

ERCC8
ERCC6

Variants

Provenance

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