Results 151 to 160 of about 6,819 (177)

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. In addition, GS is not a benign syndrome; however, the diagnostic process of GS has not yet been completely detailed.We report two cases of GS pedigrees involving two
Xinyi, Zheng, Shunlai, Shang, Guangyan, Cai, Xiangmei, Chen, Qinggang, Li   +4 more
openaire   +2 more sources

R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome

Frontiers of Medicine, 2022
The dysfunction of Na+-Cl- cotransporter (NCC) caused by mutations in solute carrier family12, member 3 gene (SLC12A3) primarily causes Gitelman syndrome (GS). In identifying the pathogenicity of R158Q and G212S variants of SLC12A3, we evaluated the pathogenicity by bioinformatic, expression, and localization analysis of two variants from a patient in ...
Zongyue, Li, Huixiao, Wu, Shuoshuo, Wei, Moke, Liu, Yingzhou, Shi, Mengzhu, Li, Ning, Wang, Li, Fang, Bo, Xiang, Ling, Gao, Chao, Xu, Jiajun, Zhao   +11 more
openaire   +2 more sources

Novel SLC12A3 Mutations in Chinese Patients With Gitelman’s Syndrome

Nephron Physiology, 2008
Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. In a minority of cases, GS-like phenotypes are caused by mutations in the CLCNKB gene.We searched for SLC12A3 and CLCNKB gene mutations in 13 Chinese patients (9 males and 4 females, age 35 +/- 14 years)
Hong Ren, Weiming Wang, Leping Shao
exaly   +2 more sources

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

Clinical Endocrinology, 2022
AbstractObjectiveGitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide‐sensitive sodium‐chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the SLC12A3 gene.
Qiao Ying, Zhinan Ye, Wei Zhang, Yingying Pan, Linxiong Dai, Kaisang Lin, Xiaocheng Feng, Xuehong Dong, Fei He   +8 more
openaire   +2 more sources

A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension

American Journal of Kidney Diseases, 2006
We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
Nathalie, Godefroid, Eva, Riveira-Munoz, Christine, Saint-Martin, Marie-Cécile, Nassogne, Karin, Dahan, Olivier, Devuyst   +5 more
openaire   +2 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   +3 more
openaire   +2 more sources

Role of SLC12A3 gene polymorphisms in diabetic nephropathy

AIP Conference Proceedings, 2022
Mohammed Neamah Alshimmari, Shaymaa Z. Nada, Hayder Ali Mohammed   +2 more
openaire   +1 more source

Diagnostic pitfalls in Gitelman syndrome: interpreting a single SLC12A3 variant

Cukurova Medical Journal
Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy caused by biallelic SLC12A3 variants. However, 10-30% of patients with an obvious clinical and biochemical GS phenotype carry only a single detectable variant on routine genetic testing.
Yeşim Özdemir Atikel, Ayça Kocaağa
openaire   +1 more source

[Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To detect pathological variants of the SLC12A3 gene in a Chinese pedigree affected with Gitelman syndrome (GS).Clinical data and peripheral blood samples of the proband and his family members were collected. All exons of the SLC12A3 gene were amplified by PCR and subjected to Sanger sequencing.Sanger sequencing has revealed that the proband has carried
Qian, Ma, Jinlin, Wu, Lingyi, Che, Xiangdong, Kong   +3 more
openaire   +1 more source

Novel SLC12A3 Gene Mutations and Clinical Characteristics in Two Pedigrees With Gitelman Syndrome

Clinical Endocrinology, 2023
Qiao Ying, Fei He, Zhinan Ye
exaly