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Spectrum of Mutations in Gitelman Syndrome

Rosa Vargas-Poussou, Karin Dahan, Diana Kahila, Annabelle Venisse, Eva Riveira-Munoz, Huguette Debaix, Bernard Grisart, Franck Bridoux, Robert Unwin, Bruno Moulin, Jean-Philippe Haymann, Marie-Christine Vantyghem, Claire Rigothier, Bertrand Dussol, Michel Godin, Hubert Nivet, Laurence Dubourg, Ivan Tack, Anne-Paule Gimenez-Roqueplo, Pascal Houillier, Anne Blanchard, Olivier Devuyst and Xavier Jeunemaitre
JASN April 2011, 22 (4) 693-703; DOI: https://doi.org/10.1681/ASN.2010090907
Rosa Vargas-Poussou
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Karin Dahan
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Diana Kahila
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Annabelle Venisse
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Eva Riveira-Munoz
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Huguette Debaix
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Bernard Grisart
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Franck Bridoux
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Robert Unwin
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Bruno Moulin
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Jean-Philippe Haymann
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Marie-Christine Vantyghem
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Claire Rigothier
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Bertrand Dussol
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Michel Godin
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Hubert Nivet
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Laurence Dubourg
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Ivan Tack
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Anne-Paule Gimenez-Roqueplo
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Pascal Houillier
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Anne Blanchard
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Olivier Devuyst
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Xavier Jeunemaitre
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Abstract

Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements may account for unidentified mutations. Here, we directly sequenced genomic DNA from a large cohort of 448 unrelated patients suspected of having GS. We found 172 distinct mutations, of which 100 were unreported previously. In 315 patients (70%), we identified two mutations; in 81 patients (18%), we identified one; and in 52 patients (12%), we did not detect a mutation. In 88 patients, we performed a search for large rearrangements by multiplex ligation-dependent probe amplification (MLPA) and found nine deletions and two duplications in 24 of the 51 heterozygous patients. A second technique confirmed each rearrangement. Based on the breakpoints of seven deletions, nonallelic homologous recombination by Alu sequences and nonhomologous end-joining probably favor these intragenic deletions. In summary, missense mutations account for approximately 59% of the mutations in Gitelman's syndrome, and there is a predisposition to large rearrangements (6% of our cases) caused by the presence of repeated sequences within the SLC12A3 gene.

  • Copyright © 2011 by the American Society of Nephrology
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Journal of the American Society of Nephrology: 22 (4)
Journal of the American Society of Nephrology
Vol. 22, Issue 4
1 Apr 2011
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Spectrum of Mutations in Gitelman Syndrome
Rosa Vargas-Poussou, Karin Dahan, Diana Kahila, Annabelle Venisse, Eva Riveira-Munoz, Huguette Debaix, Bernard Grisart, Franck Bridoux, Robert Unwin, Bruno Moulin, Jean-Philippe Haymann, Marie-Christine Vantyghem, Claire Rigothier, Bertrand Dussol, Michel Godin, Hubert Nivet, Laurence Dubourg, Ivan Tack, Anne-Paule Gimenez-Roqueplo, Pascal Houillier, Anne Blanchard, Olivier Devuyst, Xavier Jeunemaitre
JASN Apr 2011, 22 (4) 693-703; DOI: 10.1681/ASN.2010090907

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Spectrum of Mutations in Gitelman Syndrome
Rosa Vargas-Poussou, Karin Dahan, Diana Kahila, Annabelle Venisse, Eva Riveira-Munoz, Huguette Debaix, Bernard Grisart, Franck Bridoux, Robert Unwin, Bruno Moulin, Jean-Philippe Haymann, Marie-Christine Vantyghem, Claire Rigothier, Bertrand Dussol, Michel Godin, Hubert Nivet, Laurence Dubourg, Ivan Tack, Anne-Paule Gimenez-Roqueplo, Pascal Houillier, Anne Blanchard, Olivier Devuyst, Xavier Jeunemaitre
JASN Apr 2011, 22 (4) 693-703; DOI: 10.1681/ASN.2010090907
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