Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
| Title: | Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam. |
|---|---|
| Authors: | Huong NTM; Department of Human Genetics, National Children's Hospital, Hanoi, Viet Nam.; Hoa NPA; Department of Hepatology, National Children's Hospital, Hanoi, Viet Nam.; Ngoc ND; Department of Human Genetics, National Children's Hospital, Hanoi, Viet Nam.; Mai NTP; Department of Human Genetics, National Children's Hospital, Hanoi, Viet Nam.; Yen PH; Department of Hepatology, National Children's Hospital, Hanoi, Viet Nam.; Anh HTV; Department of Hepatology, National Children's Hospital, Hanoi, Viet Nam.; Hoa G; Gene Solutions, Ho Chi Minh City, Viet Nam.; Medical Genetics Institutes, Ho Chi Minh City, Viet Nam.; Dien TM; Department of Human Genetics, National Children's Hospital, Hanoi, Viet Nam.; Department of Hepatology, National Children's Hospital, Hanoi, Viet Nam. |
| Source: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Mar 15; Vol. 31, pp. 100861. Date of Electronic Publication: 2022 Mar 15 (Print Publication: 2022). |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: [New York, NY] : Elsevier Inc., [2014]- |
| Abstract: | Background: Wilson disease (WD) is caused by mutations in the copper-transporting P-type adenosine triphosphatase encoded by the ATP7B gene. In this study, we screened and identified the ATP7B mutations among unrelated Vietnamese pediatric patients.; Methods: One-hundred-thirteen pediatric patients with clinically diagnosed WD were recruited. DNA samples were extracted from peripheral blood. Mutations in the ATP7B gene were identified by Sanger sequencing.; Results: Approximately 98% of the clinically diagnosed WD patients carried ATP7B mutations. A total of 35 different ATP7B variants were detected, including five novel mutations (L658P, L792P, T977K, IVS4 + 1G > A and IVS20 + 4A > G). Remarkably, this study revealed that S105* was the most prevalent variant (32.27%), followed by L1371P (9.09%), I1148T (7.27%), R778L (6.36%), T850I (5.45%), V176Sfs*28 and IVS14-2A > G (4.55%). Most ATP7B mutations were located in the exon 2 (37.73%), exon 16 (10.00%), exon 8 (9.55%), exon 20 (9.09%), exon 10 and exon 18 (5.45%), exon 14 (5.00%), exon 13 and intron 14 (4.55%). We developed a streamlined procedure to quickly characterize mutations in the ATP7B gene in the Vietnamese children, starting with sequencing exon 2 and subsequently to exons 8,10,13-16,18, and 20 to allow quick diagnosis of clinically suspected patients.; Conclusion: The mutational spectrum and hotspots of ATP7B gene in the Vietnamese population were fairly different from other East Asian populations. A streamlined procedure was developed to screen exon 2 in ATP7B gene among suspected WD patients to reduce genetically diagnostic cost, to facilitate early detection and intervention in countries with limited resources.; (© 2022 The Authors.) |
| Competing Interests: | We declare that there is no conflict of interest. |
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| Contributed Indexing: | Keywords: ATP7B gene; Hotspot regions; Mutations; Variants; Wilson disease |
| Entry Date(s): | Date Created: 20220705 Latest Revision: 20240831 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC9248214 |
| DOI: | 10.1016/j.ymgmr.2022.100861 |
| PMID: | 35782615 |
| Database: | MEDLINE |
Journal Article