A novel splice site mutation of the thiazide- sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome

Iida, Keiji; Hanafusa, Masao; Maekawa, Iwao; Kudo, Takao; Takahashi, Ken; Yoshioka, Shinichi; Kishimoto, Megumi; Iguchi, G; Tsukamoto, Tatsuya; Okimura, Yasuhiko; Kaji, Hidesuke; Chihara, Kazuo

doi:10.5414/cnp62180

Cited by 7 publications

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“…Gene analysis is therefore very important for the diagnosis of GS [9]. In Japan, several mutations of the TSC gene have been reported in patients with GS [10][11][12]. We here report a novel mutation of the initial codon of the TSC gene in a Japanese patient with GS.…”

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confidence: 80%

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

et al. 2008

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Abstract. We here report a novel mutation of the thiazide-sensitive Na-Cl cotransporter (TSC) (SLC12A3) gene in a Japanese patient with Gitelman's syndrome (GS). GS is characterized by a renal disorder and is associated with hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria arising from the defective tubular reabsorption of magnesium and potassium. This disease is reportedly caused by mutations in the TSC gene. A 52-year-old man was referred to our hospital because of sleeplessness and tinnitus. He exhibited hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic hyperaldosteronism. A renal clearance study revealed that the administration of furosemide decreased chloride reabsorption; however, the ingestion of thiazide failed to decrease chloride reabsorption. A diagnosis of GS was made based on the clinical features, laboratory data and renal function test results. Sequencing of the patient's genomic DNA revealed an A to T transition at the initial codon of exon 1 of the TSC gene (c1A>T). Knowledge of this novel mutation may be helpful for understanding the pathophysiology of GS and the function of TSC as well as for providing genetic counseling.

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confidence: 80%

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

et al. 2008

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“…More than 50 mutations have been reported in Asian populations [23,24,[27][28][29]42,51,[55][56][57][58]. In particular, Thr60Met is the most prevalent mutant in Asian patients with Gitelman's syndrome [23,24,[27][28][29]42], while in the Gypsy people, Gitelman's syndrome was featured by intron 9 +1G>T [53].…”

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confidence: 99%

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

Wang¹,

Dong²,

Xi³

et al. 2015

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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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“…Other authors have found GS mutations in acceptor splicing site of other introns (Simon et al 1996;Iida et al 2004). The c.2667 þ lT .…”

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confidence: 95%

“…SLC12A3 gene found in patients with GS are more than 100 (Mastroianni et al 1996;Simon et al 1996;Lemmink et al 1998;Kunchaparty et al 1999;Melander et al 2000;De Jong et al 2002;Syren et al 2002;Tajima et al 2002;Cheng et al 2003;Garcia Nieto et al 2003;Yoo et al 2003;Coto et al 2004;Iida et al 2004;Maki et al 2004;Sabath et al 2004;Tago et al 2004;Monkawa et al 2000) and the mutations are evenly distributed throughout the entire gene. The aim of the present study was to identify SLC12A3 mutations in a large collection of 30 patients from southern Sweden with a clinical diagnosis of GS.…”

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confidence: 96%

Novel mutations in theSLC12A3gene causing Gitelman's syndrome in Swedes

et al. 2007

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A novel splice site mutation of the thiazide- sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome

Cited by 7 publications

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A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

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

Novel mutations in theSLC12A3gene causing Gitelman's syndrome in Swedes

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A novel splice site mutation of the thiazide- sensitive NaCl cotransporter gene in a Japanese patient with Gitelman syndrome

Cited by 7 publications

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A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome

A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's 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

Novel mutations in theSLC12A3gene causing Gitelman's syndrome in Swedes

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