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Original Paper

Novel SLC12A3 Mutations in Chinese Patients with Gitelman’s Syndrome

Shao L.a, b · Ren H.a · Wang W.a · Zhang W.a · Feng X.a · Li X.a · Chen N.a

Author affiliations

aDepartment of Nephrology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, and bDepartment of Nephrology, Affiliated Hospital, Qingdao University Medical College, Qingdao, China

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Nephron Physiol 2008;108:p29

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 01, 2007
Accepted: December 19, 2007
Published online: February 21, 2008
Issue release date: April 2008

Number of Print Pages: 1
Number of Figures: 3
Number of Tables: 5


eISSN: 1660-2137 (Online)

For additional information: https://www.karger.com/NEP

Abstract

Background: Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman’s syndrome (GS), a disorder inherited as an autosomal recessive trait. In a minority of cases, GS-like phenotypes are caused by mutations in the CLCNKB gene. Methods: We searched for SLC12A3 and CLCNKB gene mutations in 13 Chinese patients (9 males and 4 females, age 35 ± 14 years) from 8 unrelated families with the clinical and biochemical features of GS. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Results: We identified 10 mutations distributed throughout the SLC12A3 gene. Seven are novel variants, including 4 missense mutations (Gly196Val, Cys430Gly, Gly439Val and Leu571Pro), 2 deletions (1384delG and 346–353delACTGATGG) and 1 in-frame insertion (997insCys). Three mutations were recurrent, including 2 missense mutations (Thr60Met and Asp486Asn) and 1 deletion (2883–2884delAG). The homozygous or heterozygous mutation Thr60Met was found in 8 of 13 patients. There were no mutations detected in the CLCNKB gene. Conclusions: Thr60Met may be the most common mutation in Chinese patients with GS. Possible specific genotype-phenotype correlations were difficult to identify.

© 2008 S. Karger AG, Basel


References

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    External Resources
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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: May 01, 2007
Accepted: December 19, 2007
Published online: February 21, 2008
Issue release date: April 2008

Number of Print Pages: 1
Number of Figures: 3
Number of Tables: 5


eISSN: 1660-2137 (Online)

For additional information: https://www.karger.com/NEP


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