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psoriasis; CARD14 gene; sequence analysis; novel variants.

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.

YIKE HUANG^{1 2 3} CHENHUI ZHANG² LU TAO¹ JIAQING ZHOU¹ JIE ZHU¹ KEXIANG YAN¹ LING HAN¹ QIONG HUANG¹ JINXIU SHI² ZHENGHUA ZHANG¹

1. Department of Dermatology, Huashan Hospital, Shanghai Medical College of Fudan University, Shanghai 200040, People’s Republic of China
2. Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai (CHGC) and Shanghai Industrial Technology Institute (SITI), Shanghai 200000, People’s Republic of China
3. Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen 361000, People’s Republic of China

Published

16 July 2020

Manuscript received

5 December 2019

Manuscript revised

11 March 2020

Accepted

21 April 2020

• 00061_suppl.doc