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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

✍ Scribed by Marie-Louise Syrén; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo Colussi; Mirella Procaccio; Anna Alì; Raffaele Domenici; Fabio Malberti; Monica Sprocati; Michele Sacco; Nunzia Miglietti; Alberto Edefonti; Fabio Sereni; Giorgio Casari; Domenico A. Coviello; Alberto Bettinelli

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
162 KB
Volume
20
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis). All coding regions with their intron-exon boundaries were analyzed using PCR and SSCP techniques followed by sequencing analysis. We identified 21 different mutations evenly distributed throughout the gene without any mutation hot-spot. Fifteen are novel variants, including 12 missense mutations, one deletion, one deletion-insertion and one splice site mutation: R158Q, T163M, W172R, G316V, G374V, G463E, A464T, S615W, V677M, R852S, R958G, C985Y, 2114-2120delACCAAGT, 2144-2158delGCCTTCTACTCGGATinsTG, and 531-2A>G.

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