Phenotype: Bartter syndrome, type 3


OMIM: 607364
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

CLCNKB || c.610G>A

Gene/Locus:    CLCNKB
Dna Change:    c.610G>A
Protein Change:    p.Ala204Thr
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 7
Transcript:    NM_000085.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA10 patients/9 unrelated familiesNARodríguez-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
SpainNANA88% (23 patients/26 patients)NAGarcía 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
SpainNANA1 patientNAGorgojo 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