Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

被引：4

作者：

Qian, Zhiling ^{[1
]}

Cui, Xiongwei ^{[1
]}

Huang, Yunli ^{[2
]}

Liu, Yanmin ^{[2
]}

Li, Ning ^{[3
]}

Zheng, Sujun ^{[4
]}

Jiang, Jun ^{[5
]}

Cui, Shichang ^{[1
]}

机构：

[1] Capital Med Univ, Beijing YouAn Hosp, Intervent Ctr Oncol, Beijing, Peoples R China

[2] Capital Med Univ, Beijing YouAn Hosp, Dept Immunol Liver Dis, Beijing, Peoples R China

[3] Capital Med Univ, Beijing YouAn Hosp, Surg Dept, Beijing, Peoples R China

[4] Capital Med Univ, Beijing YouAn Hosp, Dept Artificial Liver Therapy, Beijing, Peoples R China

[5] Beijing Macro & Micro Test Bio Tech Co Ltd, Beijing, Peoples R China

来源：

MOLECULAR GENETICS & GENOMIC MEDICINE | 2019年 / 7卷 / 05期

关键词：

ATP7B; mutation; Wilson's disease; IDENTIFICATION;

D O I：

10.1002/mgg3.649

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BackgroundWilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders. MethodsDirect sequencing of the ATP7B gene is the most sensitive and widely used confirmatory testing method. Fourteen probands with WD and 12 family members participated in this study. The ATP7B gene was analyzed by direct sequencing. ResultsTwenty-nine different variants (27 substitutions, 1 duplication, 1 deletion) were found. Of the 23 reported variants, nine nondisease variants, 11 disease variants, one silent variant, and two variants with uncertain functions were identified. The six novel variants included c.1875T>A, c.2306T>C, c.3028A>G, c.3243G>A, c.3437_3438 delTG, and c.3903+5G>A. ConclusionThese findings will assist in the diagnosis of WD. The novel variants have enriched the WD database.

引用

页数：6

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