title: ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.
abstract: A large proportion of autosomal recessive distal renal tubular acidosis (RTA) is associated with mutations in the ATP6B1 gene encoding the B1 subunit of H+-ATPase. H+-ATPase is one of the key membrane transporters for net acid excretion in the alpha-intercalated cells of the medullary collecting duct. Sensorineural hearing loss frequently accompanies this type of distal RTA. Mutational analysis of the ATP6B1 gene in a 9-year-old Korean boy with distal RTA and sensorineural hearing loss found 2 heterozygous missense point mutations. Although a single case report, this is the second report documenting ATP6B1 mutations in recessive distal RTA with sensorineural hearing loss after the original report by Karet et al and confirms the novelty of these mutations.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital and Clinical Research Institute, Ulsan Medical University, Asan Medical Center, Seoul, Korea.
authors.forename: Hyewon
authors.initials: H
authors.lastname: Hahn
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
mesh_terms: D000141:Acidosis, Renal Tubular / Q000201:enzymology / Q000235:genetics*; D002648:Child; D005808:Genes, Recessive / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011257:Pregnancy Proteins; D021122:Protein Subunits / Q000235:genetics*; D017494:Proton Pumps / Q000235:genetics*; D006180:Proton-Translocating ATPases; D013491:Suppressor Factors, Immunologic; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: D011257:Pregnancy Proteins; D021122:Protein Subunits; D017494:Proton Pumps; D013491:Suppressor Factors, Immunologic; C490181:ATP6V0A4 protein, human; D025262:Vacuolar Proton-Translocating ATPases; D006180:Proton-Translocating ATPases