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Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome
BACKGROUND: The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. MATERIAL/METHODS: We searched the literature about Chinese patients with GS in the PubMed da...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703089/ https://www.ncbi.nlm.nih.gov/pubmed/31398183 http://dx.doi.org/10.12659/MSM.916069 |
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author | Zeng, Yanmei Li, Ping Fang, Shu Wu, Chunyan Zhang, Yudan Lin, Xiaochun Guan, Meiping |
author_facet | Zeng, Yanmei Li, Ping Fang, Shu Wu, Chunyan Zhang, Yudan Lin, Xiaochun Guan, Meiping |
author_sort | Zeng, Yanmei |
collection | PubMed |
description | BACKGROUND: The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. MATERIAL/METHODS: We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene. We divided all the patients into 3 groups according to diagnostic consensus. Complete compliance was defined to mean containing 2 allelic mutations, partial compliance to mean one allelic mutation, and clinical compliance to mean no mutations. RESULTS: Totally, 137 patients were enrolled in this study and 90 mutations were counted. Missense mutations accounted for over 72% in Chinese GS patients and the most common one was Thr60Met. According to the consensus, there were 102 patients (74.5%) in the complete compliance group, 31 patients (22.6%) in the partial compliance group, and only 4 patients (2.9%) in the clinical compliance group. CONCLUSIONS: The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations. Most of the patients were in the complete compliance group (i.e., 2 allelic mutations); the other cases might be explained by gene rearrangement. |
format | Online Article Text |
id | pubmed-6703089 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-67030892019-09-12 Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome Zeng, Yanmei Li, Ping Fang, Shu Wu, Chunyan Zhang, Yudan Lin, Xiaochun Guan, Meiping Med Sci Monit Clinical Research BACKGROUND: The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. MATERIAL/METHODS: We searched the literature about Chinese patients with GS in the PubMed database up to July 2018 and also included 8 GS Chinese patients from our hospital in our analysis that explored the features of SLC12A3 gene. We divided all the patients into 3 groups according to diagnostic consensus. Complete compliance was defined to mean containing 2 allelic mutations, partial compliance to mean one allelic mutation, and clinical compliance to mean no mutations. RESULTS: Totally, 137 patients were enrolled in this study and 90 mutations were counted. Missense mutations accounted for over 72% in Chinese GS patients and the most common one was Thr60Met. According to the consensus, there were 102 patients (74.5%) in the complete compliance group, 31 patients (22.6%) in the partial compliance group, and only 4 patients (2.9%) in the clinical compliance group. CONCLUSIONS: The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations. Most of the patients were in the complete compliance group (i.e., 2 allelic mutations); the other cases might be explained by gene rearrangement. International Scientific Literature, Inc. 2019-08-09 /pmc/articles/PMC6703089/ /pubmed/31398183 http://dx.doi.org/10.12659/MSM.916069 Text en © Med Sci Monit, 2019 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Clinical Research Zeng, Yanmei Li, Ping Fang, Shu Wu, Chunyan Zhang, Yudan Lin, Xiaochun Guan, Meiping Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title | Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title_full | Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title_fullStr | Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title_full_unstemmed | Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title_short | Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome |
title_sort | genetic analysis of slc12a3 gene in chinese patients with gitelman syndrome |
topic | Clinical Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703089/ https://www.ncbi.nlm.nih.gov/pubmed/31398183 http://dx.doi.org/10.12659/MSM.916069 |
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