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Clinical and genetic features of Gitelman syndrome patients with hyperuricemia. [PDF]

Clin Kidney J
Zhang L, Lv N, Zhao H, Zhao B, Peng X, Xu L, Wang M, Chen L.   +7 more
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A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

Journal of Genetics, 2019
Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the SLC12A3 gene. A female and a male sibling from two unrelated Greek-Cypriot families presenting with a severe salt-wasting tubulopathy due to compound heterozygous mutations of a novel duplication and a previously reported missense mutation in the SLC12A gene
P. Fanis, E. Efstathiou, V. Neocleous, L. Phylactou, A. Hadjipanayis   +4 more
semanticscholar   +6 more sources

A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome

Endocrine, 2019
Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC).
Xin Wang, Yu Ding, Qi Liu, Guocan Yang
semanticscholar   +5 more sources

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

Genes & Genomics, 2020
Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene.The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations.Next-generation sequencing and Sanger ...
Minglan Yang, Ying Dong, Jianqing Tian, Li Yan, Yawen Chen, Huiying Qiu, Wei Liu, Yao-min Hu   +7 more
semanticscholar   +5 more sources

Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome

Clinical Endocrinology, 2022
Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide‐sensitive sodium‐chloride cotransporter (NCC).
Qiao Ying, Zhinan Ye, W. Zhang, Yingying Pan, Linxiong Dai, Kai Lin, Xiaocheng Feng, Xue-hong Dong, Fei He   +8 more
semanticscholar   +3 more sources

Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.

Clinical Nephrology, 2021
As the most frequent inherited tubulopathy, Gitelman syndrome (GS), has an incidence that has increased worldwide. The distribution of SLC12A3 gene mutation hotspots deserves exploration.
Xinyi Zheng, Shunlai Shang, G. Cai, Xiangmei Chen, Qinggang Li   +4 more
semanticscholar   +3 more sources

Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome

Scandinavian Journal of Clinical and Laboratory Investigation, 2021
Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14 family members) were enrolled.
Feng Wang, Manli Guo, Jing Li, Shaogang Ma   +3 more
semanticscholar   +3 more sources

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Clinica Chimica Acta
Gitelman syndrome (GS) is the most prevalent genetic tubulopathy characterized by several electrolyte abnormalities, including hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Chun-yiu Law, D. Lui, Eunice Y. T. Lau, C. L. Woo, Johnny Yau-Cheung Chang, Eunice Leung, A. Lee, Chi Ho Lee, Y. Woo, W. Chow, K. S. Lam, K. Tan, T. Ling, Ching-Wan Lam   +13 more
semanticscholar   +3 more sources

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.

Endocrine Practice, 2018
OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive disorder characterized by salt wasting and hypokalemia resulting from mutations in the SLC12A3 (solute carrier family 12 member 3) gene, which encodes the thiazide-sensitive sodium-chloride ...
Simo Liu, Jing Ke, Baoyu Zhang, Caiguo Yu, Yingmei Feng, Dong Zhao   +5 more
semanticscholar   +3 more sources