Identification of five novel variants in the thiazide‐sensitive NaCl co‐transporter gene in Chinese patients with Gitelman syndrome

Shao, Leping; Ren, Hong; Wang, Weiming; Pan, Xiaoxia; Zhang, Wen; Wang, Zhaohui; Shen, Ping; Chen, Nan

doi:10.1111/j.1440-1797.2008.01042.x

Cited by 23 publications

(37 citation statements)

References 35 publications

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“…The other three patients (#4, 9, and 10) carried compound heterozygous mutations (N359K/D486N, N359K/c.493-496delACGG, and D486N/R928C). Among these mutations, N359K, D486N, and R928C have been described in GS patients (Simon et al, 1996;Lemmink et al, 1998;Qin et al, 2009), whereas the small deletion in exon 3 was novel, to the best of our knowledge. This 4-base pair deletion can cause a frameshift in exon 3, resulting in the predictable termination at amino acid 169 and a lack of the C-terminal of the protein.…”

Section: Discussionmentioning

confidence: 72%

“…Genetic testing of a group of patients clinically diagnosed with GS shows that T60M may be the most common mutation in the Chinese population (Shao et al, 2007). However, not all patients with GS carry mutations in SLC12A3, suggesting that there may be other genetic loci manifesting similar phenotypes (Qin et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

“…No abnormalities were found in the CLCNKB gene in patients with single heterozygous mutations. The absence of abnormalities in the CLCNKB and SLC12A3 genes in four patients suggests that other factors may contribute to the GS phenotype (Monkawa et al, 2000;Qin et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Miao¹,

Zhao²,

Xl³

et al. 2016

Genet. Mol. Res.

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ABSTRACT.To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data. The causative gene for Gitelman syndrome, SLC12A3, and the causative gene for the classic Bartter syndrome, CLCNKB, were screened for disease-causing mutations by direct sequencing. Clinical diagnoses of ten patients were consistent with Gitelman syndrome. Disease-causing mutations in the SLC12A3 gene were found in six patients. Among the variants, T60M in exon 1 was the hot spot in Chinese patients. Additionally, we found a small deletion of ACGG in exon 3 and L671P in exon 16; these have not been reported in previous studies. No disease-causing mutations were observed in the other four patients. Since mutations in the SLC12A3 and CLCNKB genes are not present in all patients with clinical manifestations of Gitelman syndrome, genetic screening after clinical diagnosis is essential.

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

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Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Miao¹,

Zhao²,

Xl³

et al. 2016

Genet. Mol. Res.

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“…1,2,4,8,9,11,[14][15][16] These mutations include missense-, nonsense-, frame-shift-, and splice-site mutations. In addition, deletions of (part) the gene have been identified.…”

Section: Mutational Spectrummentioning

confidence: 99%

Clinical utility gene card for: Gitelman syndrome

2011

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“…Gitelman's syndrome, an autosomal-recessively inherited renal salt-losing disorder, is mainly caused by inactivating mutations in the SLC12A3 gene encoding TSC in the DCT [8,9]. To date, more than 200 distinct TSC mutants related to Gitelman's syndrome have been identified, while ∼30 of them have been reported in Chinese population [23][24][25][26][27][28][29]. In particular, Thr60Met is the most prevalent variant in Chinese patients with Gitelman's syndrome.…”

Section: Introductionmentioning

confidence: 99%

Thiazide-sensitive Na<sup>+</sup>–Cl<sup>−</sup> cotransporter: genetic polymorphisms and human diseases

Wang¹,

Dong²,

Xi³

et al. 2015

ABBS

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The thiazide-sensitive Na + -Cl − cotransporter (TSC) is responsible for the major sodium chloride reabsorption pathway, which is located in the apical membrane of the epithelial cells of the distal convoluted tubule. TSC is involved in several physiological activities including transepithelial ion absorption and secretion, cell volume regulation, and setting intracellular Cl − concentration below or above its electrochemical potential equilibrium. In addition, TSC serves as the target of thiazide-type diuretics that are the first line of therapy for the treatment of hypertension in the clinic, and its mutants are also reported to be associated with the hereditary disease, Gitelman's syndrome. This review aims to summarize the publications with regard to the TSC by focusing on the association between TSC mutants and human hypertension as well as Gitelman's syndrome.

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Identification of five novel variants in the thiazide‐sensitive NaCl co‐transporter gene in Chinese patients with Gitelman syndrome

Abstract: We have identified 13 variants, including five novel variants in the SLC12A3 gene in 13 patients with Gitelman syndrome. T60M is the most frequent variant in our patients. There was no significant correlation between genotype and phenotype in our patients.

Cited by 23 publications

References 35 publications

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Clinical utility gene card for: Gitelman syndrome

Thiazide-sensitive Na<sup>+</sup>–Cl<sup>−</sup> cotransporter: genetic polymorphisms and human diseases

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Identification of five novel variants in the thiazide‐sensitive NaCl co‐transporter gene in Chinese patients with Gitelman syndrome

Abstract: We have identified 13 variants, including five novel variants in the SLC12A3 gene in 13 patients with Gitelman syndrome. T60M is the most frequent variant in our patients. There was no significant correlation between genotype and phenotype in our patients.

Cited by 23 publications

References 35 publications

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Clinical and genetic analyses of Chinese patients with Gitelman syndrome

Clinical utility gene card for: Gitelman syndrome

Thiazide-sensitive Na&lt;sup&gt;+&lt;/sup&gt;&ndash;Cl&lt;sup&gt;&minus;&lt;/sup&gt; cotransporter: genetic polymorphisms and human diseases

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Thiazide-sensitive Na<sup>+</sup>–Cl<sup>−</sup> cotransporter: genetic polymorphisms and human diseases