Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearingMutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.Peer-Reviewed Original ResearchConceptsRenal tubular acidosisTubular acidosisAcid secretionDistal renal tubular acidosisSensorineural hearing lossRenal acid secretionNormal auditory functionActive proton secretionMetabolic acidosisATP6B1Hearing lossAuditory functionSensorineural deafnessEndolymphatic sacApical proton pumpAcidosisSecretionProton secretionB subunitB1 subunitHuman diseasesMutationsPatientsDiseasePH homeostasis