García Castaño, AlejandroPérez de Nanclares, GustavoMadariaga, LeireAguirre, MireiaMadrid, ÁlvaroChocrón, SaraNadal, InmaculadaNavarro, MercedesLucas, ElenaFijo, JuliaEspino, MarEspitaletta, ZilacGarcía Nieto, VíctorBarajas de Frutos, DavidLoza, ReynerPintos, GuillemCastaño, LuisAriceta, Gema2017-05-042017-05-042017-03-13García Castaño A, Pérez de Nanclares G, Madariaga L3, Aguirre M, Madrid Á, Chocrón S,et al.Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. PLoS One. 2017 Mar 13;12(3):e0173581.http://hdl.handle.net/10668/2629Membership of the RenalTube group Alejandro García Castaño, Eva Braga, Elizabeth Córdoba, Eliecer Coto, Enrique García, Elena Ramos, Flor Ángel Ordóñez, Félix Claverie, Fernando Santos, Gema Ariceta, Gustavo Pérez de Nanclares, Helena Gil, Hilaria González, Julián Rodríguez, Luis Castaño, Leire Madariaga, Mireia Aguirre, María Isabel Luis-Yanes, Natalia Mejía, Rocío Fuente, Victoria Álvarez, Víctor Manuel García, Vanessa Loredo.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.enAlcalosisAlelosSíndrome de bartterCanales de cloruroDeshidrataciónExonesGenotipoHumanosHipercalciuriaHipopotasemiaIntronesNefrocalcinosisPolidipsiaReacción en cadena de la polimerasaRemisión y consultaEliminación de secuenciaMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Acid-Base Imbalance::AlkalosisMedical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter SyndromeMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Chloride ChannelsMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::DehydrationMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::ExonsMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::GenotypeMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::HypercalciuriaMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::HypokalemiaMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::IntronsMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::NephrocalcinosisMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::PolydipsiaMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain ReactionMedical Subject Headings::Health Care::Health Services Administration::Organization and Administration::Professional Practice::Referral and ConsultationMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletionresearch article28288174open access10.1371/journal.pone.01735811932-6203PMC5348002