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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
Zhiling Qian1, Xiongwei Cui1, Yunli Huang2
1Interventional Center for Oncology, Beijing YouAn Hospital, Capital Medical University, Beijing, China.
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.
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