Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis,Journal of Genetics

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Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis
Journal of Genetics ( IF 1.5 ) Pub Date : 2020-07-16 , DOI: 10.1007/s12041-020-01219-5
Yike Huang , Chenhui Zhang , Lu Tao , Jiaqing Zhou , Jie Zhu , Kexiang Yan , Ling Han , Qiong Huang , Jinxiu Shi , Zhenghua Zhang

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.

更新日期：2020-07-16

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