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Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman’s syndrome

✍ Scribed by Noriko Aoi; Tomohiro Nakayama; Yoshiko Tahira; Akira Haketa; Minako Yabuki; Tadataka Sekiyama; Chie Nakane; Hiroaki Mano; Hideomi Kawachi; Naoyuki Sato; Masayoshi Soma; Kouichi Matsumoto

Book ID
107571085
Publisher
Springer
Year
2007
Tongue
English
Weight
184 KB
Volume
31
Category
Article
ISSN
0969-711X

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Gitelman syndrome (GS) is characterized by salt-losing hypotension, hypomagnesemia, hypokalemic metabolic alkalosis, and hypocalciuria. To better model human GS caused by a specific mutation in the thiazidesensitive Na 1 -Cl À cotransporter (NCC) gene SLC12A3, we generated a nonsense Ncc Ser707X kno

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Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome
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The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searche

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Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome
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The authors regret that there was an error in Table 2 on Page 3 of the original article. In patient 2, the substitution 2979C>T is not correct. It should be 2979G>A, just as found in patient 12 who has the identical mutation.