<b><i>Background:</i></b> Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder, which caused by the mutations in <i>SLC12A3</i>. This study was designed to analyze characteristics of genotype and phenotype, follow-up largest group Chinese patients with GS. <b><i>Methods:</i></b> Sixty-seven GS underwent <i>SLCl2A3</i> analysis, their clinical biochemical findings as well were reviewed, aiming achieve...

Background Cystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense literature databases, may be deleterious affecting pre-mRNA splicing process. Methods We analyzed 27 exonic gene utilizing bioinformatics tools and identified candidate could lead to changes through minigene assays. Ultimately, we selected eight assess their effects on...

Tuberous sclerosis complex (TSC) is characterized by abnormalities in cell proliferation and migration, leading to the development of hamartomas, benign tumors, or malignant cancers, affecting both skin brain, as well potentially impacting heart, kidneys, lungs, eyes, with varying patterns involvement over a lifetime. It primarily caused mutations TSC1 TSC2 genes. Aberrant splicing crucial factor hereditary diseases. Alternative key mechanism for expanding diversity human proteome. Mutations...

Inactivating mutations of the SLC12A3 gene are most common cause Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. In minority cases, GS-like phenotypes caused by in CLCNKB gene.We searched for and 13 Chinese patients (9 males 4 females, age 35 +/- 14 years) from 8 unrelated families with clinical biochemical features GS. All coding regions, including intron-exon boundaries, were analyzed using PCR followed direct sequence analysis.We identified 10 distributed...

<b><i>Background:</i></b> Twenty-six <i>HOGA1</i> mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never described Asians. <b><i>Methods:</i></b> A Chinese child early-onset nephrolithiasis was suspected having PH. We searched <i>AGXT</i>, <i>GRHPR</i> and gene this patient his parents. All...

Primary distal renal tubular acidosis (dRTA) is a rare disease associated with variants in SLC4A1, ATP6V0A4, ATP6V1B1, FOXⅠ1, or WDR72 genes. Currently, there growing evidence that all types of exonic can alter splicing regulatory elements, affecting the precursor messenger RNA (pre-mRNA) process. This study was to determine consequences dRTA on pre-mRNA combined predictive bioinformatics tools and minigene assay. As result, among 15 candidate variants, 7 distributed SLC4A1 (c.1765C>T,...

Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) inherited renal tubular disease. However, coexistence these two diseases has never been previously reported. AIM AND SUBJECTS: The aim our study was to describe association GS and PA in unrelated patients compare their clinical presentation with a group GS.Ten subjects suspected have only were assigned control group. Saline infusion test used confirm diagnosis PA. confirmed by...

The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages 2 13 years. Both ATP6V1B1 were preferentially screened all index cases by direct sequence analysis. If inconclusive then gene should be analyzed for mutation. Their clinical features, hearing status inner ear imaging structure also investigated. Six...

// Yue Han 1, 2 , Yi Lin 3 Qing Sun 4 Shujuan Wang Yanxia Gao 5 and Leping Shao 1 Central Laboratory, Affiliated Hospital, Qingdao University, 266003, P.R. China Department of Nephrology, Pediatrics, Women Children's 266011, Branch Qilu Hospital Shandong Qingdao, 266000, Correspondence to: Shao, email: lepingshao@163.com Gao, gaoyanxia31@163.com Keywords: bartter syndrome; CLCNKB gene; SLC12A1 BSND genotype phenotype Received: June 27, 2017 Accepted: August 29, Published: September ABSTRACT...

Abstract Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na + -glucose co-transporters 2 (SGLT2). The aim of this study was to analyze and identify 16 patients from 8 families with FRG. All coding regions, including intron-exon boundaries, were analyzed using PCR followed direct sequence analysis. Six gene identified, five missense (c.393G > C, p.K131N; c.1003A G, p.S335G; c.1343A p.Q448R; c.1420G p.A474P; c.1739G A, p.G580D) a 22-bp deletion...

Abstract Background Gitelman syndrome (GS) is a type of salt‐losing tubular disease, most which caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, phenomenon exon skipping, in disrupt normal pre‐mRNA splicing, has been related to variety diseases. Therefore, we hypothesize that certain proportion can result disease via interfering with splicing process. Methods We analyzed 342 previously presumed using bioinformatics programs identified candidate may...

Gitelman syndrome (GS; OMIM 263800) and Bartter (BS) types I–V (OMIM 241200, 601678, 607364, 602522, 601199) are a group of salt-losing tubular disorders that characterized by chronic hypokalemic alkalosis normotensive, hyperreninemic hyperaldosteronism. Mutations several genes, such as SLC12A3, SLC12A1, KCNJ, CLCNKB, BSND CASR, which involved in Na/fluid reabsorption along the distal nephron, cause these diseases, respectively [1,2,3,4,5,6]. Hypomagnesemia hypocalciuria have been discovered...

Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic metabolic alkalosis, significant hypomagnesemia, low urinary calcium, secondary aldosteronism and normal blood pressure. GS caused inactivating variants in the SLC12A3 gene, which encodes thiazide-sensitive NaCl co-transporter. So far, more than 100 have been described gene syndrome.Biochemical parameters urine were measured documented. Genomic DNA was extracted from peripheral of all patients....

Frequent studies have confirmed that homozygous or compound heterozygous loss-of-function mutation p.Thr60Met in NaCl cotransporter (NCC) lead to the salt-wasting Gitelman's syndrome (GS) of hypotension. The finding Thr60 is a key SPAK/OSR1 phosphorylation site on NCC also raises possible importance regulating activity and blood pressure (BP). However, association BP has not yet been studied.We collected 38 carriers, respectively, from 14 GS families by our previous 1,000 unrelated Han...

Pseudohypoaldosteronism type II (PHAII) is a rare renal tubular disease that inherited in an autosomal dominant manner. Mutations four genes (WNK1,WNK4,CUL3, and KLHL3) have been identified to be responsible for this disease. Cullin 3 (CUL3) KLHL3 are subunits of Cullin-RING E3 ubiquitin ligase complexes, the serine-threonine kinases WNK1 WNK4 substrates ligase. For CUL3, all mutations associated with PHAII exclusively lead exon 9 skipping. In study, we Chinese kindred caused by novel...

Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting various phenotypes because of allelic clinical heterogeneity. This study aimed to detect disease-associated mutations three PH1 patients Chinese family. All AGXT exons 3 common polymorphisms which might synergistically interact with mutations, including P11L, I340 M IVSI+74 bp were analyzed direct sequencing all family members. It demonstrated that each...

Background: Familial renal glucosuria is a rare tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense However, there growing evidence that some these can be detrimental affecting the pre-mRNA splicing process. Therefore, we hypothesize certain proportion result in disease via interfering with normal process pre-mRNA. Methods: We used bioinformatics programs to analyze 77 previously described presumed identified candidate may...

Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There growing evidence that many exonic mutations can affect the pre-mRNA normal splicing and induce exon skipping altering various regulatory signals. Therefore, aim of this study was to gain new insights into consequences associated with BS on splicing. Methods: We analyzed all missense, nonsense synonymous described six pathogenic genes...

Background: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by excessive accumulation of oxalate in plasma and urine, resulting various phenotypes due to allelic clinical heterogeneity. This study aimed analyze the genotype 21 Chinese patients with primary explore their correlations between phenotype. Methods: Combined phenotypic analysis, we identified PH from highly suspected patients. The clinical, biochemical, data were subsequently reviewed. Results: We reported...