The Journal of investigative dermatology · 2006
A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Yan Kai-Lin, Zhang Xue-Jun, Wang Zhi-Min, Yang Sen, Zhang Guo-Long, Wang Jian, Xiao Feng-Li, Gao Min, Cui Yong, Chen Jian-Jun, Fan Xing, Sun Liang-Dan, Xia Qing, Zhang Kai-Yue, Niu Zhen-Min, Xu Shi-Jie, Tzschach Andreas, Ropers Hilger, Huang Wei, Liu Jian-Jun
Аннотация
A balanced translocation was recently identified in a German psoriasis patient. One of the breakpoints was mapped immediately upstream of the microsomal glutathione S-transferase 2 (MGST2) gene, suggesting it as a candidate gene. Here, we report the identification of a novel non-synonymous mutation in MGST2 by a comprehensive sequence analysis of MGST2's coding region in Chinese psoriasis samples. We demonstrate that this mutation co-segregated with the disease phenotype within a Chinese family affected with psoriasis vulgaris and is predicted to have an impact on the normal function of MGST2 protein. However, the mutation was absent in 551 additional cases and 384 healthy Chinese controls. While requiring independent confirmation, our results suggest that this rare mutation could play a causal role in a small subset of psoriasis individuals.