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

被引：1

作者：

Huang, Yike ^{[1
,2
,3
,4
]}

Zhang, Chenhui ^{[2
,3
]}

Tao, Lu ^{[1
]}

Zhou, Jiaqing ^{[1
]}

Zhu, Jie ^{[1
]}

Yan, Kexiang ^{[1
]}

Han, Ling ^{[1
]}

Huang, Qiong ^{[1
]}

Shi, Jinxiu ^{[2
,3
]}

Zhang, Zhenghua ^{[1
]}

机构：

[1] Fudan Univ, Huashan Hosp, Dept Dermatol, Shanghai Med Coll, Shanghai 200040, Peoples R China

[2] Chinese Natl Human Genome Ctr Shanghai CHGC, Shanghai MOST Key Lab Hlth & Dis Genom, Shanghai 200000, Peoples R China

[3] Shanghai Ind Technol Inst SITI, Shanghai 200000, Peoples R China

[4] Xiamen Chang Gung Hosp, Dept Dermatol, Xiamen 361000, Peoples R China

来源：

JOURNAL OF GENETICS | 2020年 / 99卷 / 01期

基金：

中国国家自然科学基金;

关键词：

psoriasis; CARD14; gene; sequence analysis; novel variants;

D O I：

10.1007/s12041-020-01219-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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页数：4

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