Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis
Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis
复制标题
更新并鉴定中国汉族银屑病患者 CARD14 基因的三种新变异
DOI：
10.1007/s12041-020-01219-5
复制
发表时间：
2020-07-16
影响因子：
1.5
通讯作者：
Zhang, Zhenghua
中科院分区：
文献类型：
--
作者：
Huang, Yike;Zhang, Chenhui;Zhang, Zhenghua
Psoriasis-2 (PSORS2) is caused by the heterozygous mutation of the caspase recruitment domain 14 (CARD14) gene on chromosome 17q25. To evaluate the contribution of CARD14 variants in psoriasis of the Chinese Han population, we performed deep sequencing of the CARD14 gene in 372 Chinese Han patients with psoriasis. The exonic nucleotide variants were confirmed by Sanger sequencing in the affected individuals and 1114 controls. In 27 patients with psoriasis, we identified 15 variations, including three novel variants: c.381C>G (p.Cys127Trp), c.712A>G (p.Met238Val) and c.2260_2261delinsGG (p.Gln754Gly). These findings could enrich and update the Human Gene Mutation Database of CARD14 variants for psoriasis.
