Universidad Peruana Cayetano Heredia

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

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dc.contributor.author Castano, A. G.
dc.contributor.author de Nanclares, G. P.
dc.contributor.author Madariaga, L.
dc.contributor.author Aguirre, M.
dc.contributor.author Madrid, A.
dc.contributor.author Chocron, S.
dc.contributor.author Nadal, I.
dc.contributor.author Navarro, M.
dc.contributor.author Lucas, E.
dc.contributor.author Fijo, J.
dc.contributor.author Espino, M.
dc.contributor.author Espitaletta, Z.
dc.contributor.author Nieto, V. G.
dc.contributor.author de Frutos, D. B.
dc.contributor.author Loza, R.
dc.contributor.author Pintos, G.
dc.contributor.author Castano, L.
dc.contributor.author Ariceta, G.
dc.contributor.author RenalTube Group
dc.date.accessioned 2019-01-25T16:36:29Z
dc.date.available 2019-01-25T16:36:29Z
dc.date.issued 2017
dc.identifier.uri https://hdl.handle.net/20.500.12866/4853
dc.description.abstract Introduction: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p. Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS. Methods: Clinical data were retrieved from the referral centers. The exon regions and flanking intronic sequences of the CLCNKB gene were screened for mutations by polymerase chain reaction (PCR) followed by direct Sanger sequencing. Presence of gross deletions or duplications in the region was checked for by MLPA and QMPSF analyses. Results: Polyuria, polydipsia and dehydration were the main common symptoms. Metabolic alkalosis and hypokalemia of renal origin were detected in all patients at diagnosis. Calciuria levels were variable: hypercalciuria was detected in 31% of patients, while 23% had hypocalciuria. Nephrocalcinosis was diagnosed in 20% of the cohort. Two novel CLCNKB mutations were identified: a small homozygous deletion (c.753delG) in one patient and a small deletion (c.1026delC) in another. The latter was present in compound heterozygosis with the already previously described p.Glu442Gly mutation. No phenotypic association was obtained regarding the genotype. Conclusion: A poor correlation was found between a specific type of mutation in the CLCNKB gene and type III BS phenotype. Importantly, two CLCNKB mutations not previously described were found in our cohort. en_US
dc.language.iso eng
dc.publisher Public Library of Science
dc.relation.ispartofseries PLoS ONE
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Science & Technology - Other Topics en_US
dc.subject chloride channel gene en_US
dc.subject clcnkb en_US
dc.subject gitelman en_US
dc.subject molecular analysis en_US
dc.subject mutations en_US
dc.subject nephrocalcinosis en_US
dc.subject salt-losing tubulopathies en_US
dc.title Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1371/journal.pone.0173581
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1932-6203


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