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

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 an...

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Autores principales: Qian, Zhiling, Cui, Xiongwei, Huang, Yunli, Liu, Yanmin, Li, Ning, Zheng, Sujun, Jiang, Jun, Cui, Shichang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503029/
https://www.ncbi.nlm.nih.gov/pubmed/30884209
http://dx.doi.org/10.1002/mgg3.649
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author Qian, Zhiling
Cui, Xiongwei
Huang, Yunli
Liu, Yanmin
Li, Ning
Zheng, Sujun
Jiang, Jun
Cui, Shichang
author_facet Qian, Zhiling
Cui, Xiongwei
Huang, Yunli
Liu, Yanmin
Li, Ning
Zheng, Sujun
Jiang, Jun
Cui, Shichang
author_sort Qian, Zhiling
collection PubMed
description 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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spelling pubmed-65030292019-05-10 Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease Qian, Zhiling Cui, Xiongwei Huang, Yunli Liu, Yanmin Li, Ning Zheng, Sujun Jiang, Jun Cui, Shichang Mol Genet Genomic Med Clinical Reports 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. John Wiley and Sons Inc. 2019-03-18 /pmc/articles/PMC6503029/ /pubmed/30884209 http://dx.doi.org/10.1002/mgg3.649 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Reports
Qian, Zhiling
Cui, Xiongwei
Huang, Yunli
Liu, Yanmin
Li, Ning
Zheng, Sujun
Jiang, Jun
Cui, Shichang
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title_full Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title_fullStr Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title_full_unstemmed Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title_short Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
title_sort novel mutations found in the atp7b gene in chinese patients with wilson's disease
topic Clinical Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503029/
https://www.ncbi.nlm.nih.gov/pubmed/30884209
http://dx.doi.org/10.1002/mgg3.649
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