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


ABSTRACT: BACKGROUND:Wilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders. METHODS:Direct 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. RESULTS:Twenty-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. CONCLUSION:These findings will assist in the diagnosis of WD. The novel variants have enriched the WD database.

SUBMITTER: Qian Z 

PROVIDER: S-EPMC6503029 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Qian Zhiling Z   Cui Xiongwei X   Huang Yunli Y   Liu Yanmin Y   Li Ning N   Zheng Sujun S   Jiang Jun J   Cui Shichang S  

Molecular genetics & genomic medicine 20190318 5


<h4>Background</h4>Wilson's disease (WD) is an autosomal recessive genetic disease caused by mutations in ATP7B and characterized by copper metabolism disorders.<h4>Methods</h4>Direct 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.<h4>Results</h4>Twenty-nine different variants (27 substitutions, 1 duplication, 1 deletion) we  ...[more]

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