New SLC12A3 disease causative mutation of Gitelman’s syndrome
| Autor: | Nicola Perrotti, Teresa Grillone, Stefania Belviso, Marco Flavio Michele Vismara, Emma Colao, Miranda Menniti, Fernanda Fabiani, Francesco Bombardiere, Rodolfo Iuliano |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics Tubulopathy business.industry Case Report Frame-shift mutation Disease medicine.disease Compound heterozygosity SLC12A3 gene Hypocalciuria Hypokalemia Frameshift mutation Hypomagnesemia 03 medical and health sciences 030104 developmental biology Thiazide-sensitive NaCl cotransporter Mutation (genetic algorithm) medicine Gitelman’s syndrome medicine.symptom business |
| Zdroj: | World Journal of Nephrology |
| ISSN: | 2220-6124 |
| DOI: | 10.5527/wjn.v5.i6.551 |
| Popis: | Gitelman’s syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyper-reninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation (c.2581 C > T) and a new one (c.283delC) in SLC12A3 gene. The new mutation results in a possible frame-shift with a premature stop-codon (pGln95ArgfsX19). The parents of the patients, heterozygous carriers of the mutations found in SLC12A3, have no disease associated phenotype. Therefore, the new mutation is causative of GS. |
| Databáze: | OpenAIRE |
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