The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis [PDF]
Case Reports in Nephrology and Dialysis, 2021 Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
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A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia [PDF]
BMC Nephrology, 2018 Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.
Wenjun Yang +3 more
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A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrología (English Edition), 2017 Background: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are
Helena Gil-Peña +11 more
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Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome
International Journal of General Medicine, 2023 Zeli Xun,1,* Pengfei Gao,2,3,* Yanan Du,1 Xue Yan,3 Jingmin Yang,2– 4 Zhihua Wang1 1Department of Endocrinology, Xi’an Children’s Hospital, Shanxi, People’s Republic of China; 2State Key Laboratory of Genetic Engineering, School of Life Sciences,
Xun Z +5 more
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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree [PDF]
BMC Medical Genetics, 2018 Background Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities ...
Yixin Chen +5 more
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Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome [PDF]
BMC Pediatrics, 2019 Background Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have
Yuanmei Kong +6 more
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A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene [PDF]
BMC Nephrology, 2018 Background Gitelman syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Since the symptoms are not severe and laboratory results are not always clear, Gitelman syndrome can go ...
Qin Chen +4 more
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Rol de variantes genéticas en el desarrollo de Enfermedad Renal Crónica en pacientes con Diabetes Mellitus Tipo 2. [PDF]
Revista Methodo, 2018 La Enfermedad Renal Crónica (ERC) es una afección que perjudica a un gran número de pacientes. Una de las causas es la Nefropatía en pacientes con Diabetes Mellitus Tipo 2 (DM2).
Yang P +3 more
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Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient
International Journal of General Medicine, 2021 Mei Zhong,1,* Zhenwei Zhai,2,* Xing Zhou,1 Jingxia Sun,1 Hui Chen,1 Wensheng Lu1 1Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People’s Republic of China; 2Department of Endocrinology, Tongde ...
Zhong M +5 more
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Gitelman syndrome – A new mutation in the SLC12A3 gene
Nefrología, 2022 Ana Luísa Correia +2 more
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