OMIM: 607364Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CLCNKB |
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| Dna Change: | c.610G>A |
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| Protein Change: | p.Ala204Thr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_000085.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | 10 patients/9 unrelated families | NA | Rodríguez-Soriano J et al., 2005Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L, . A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.. Pediatr. Nephrol.. 2005; 20(7):891-6 |
| Spain | NA | NA | 88% (23 patients/26 patients) | NA | García Castaño A et al., 2013García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G, , . Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.. PLoS ONE. 2013; 8(9):e74673 |
| Spain | NA | NA | 1 patient | NA | Gorgojo JJ et al., 2006Gorgojo JJ, Donnay S, Jeck N, Konrad M, . A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.. Horm. Res.. 2006; 65(2):62-8 |
References
García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G, , Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.PLoS ONE. 2013; 8(9):e74673
Gorgojo JJ, Donnay S, Jeck N, Konrad M, A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.Horm. Res.. 2006; 65(2):62-8
Rodríguez-Soriano J, Vallo A, Pérez de Nanclares G, Bilbao JR, Castaño L, A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain.Pediatr. Nephrol.. 2005; 20(7):891-6