title: Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.
abstract: BACKGROUND
  Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns. ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing. ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis.
  
  
  METHODS
  Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of the ATP6V1B1 and ATP6V0A4 genes were sequenced in affected family members.
  
  
  RESULTS
  We identified a previously reported ATP6V1B1 frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.
  
  
  CONCLUSIONS
  ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: F
authors.initials: F
authors.lastname: Zeinali
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: M
authors.initials: M
authors.lastname: Mohseni
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: M
authors.initials: M
authors.lastname: Fadaee
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Fattahi
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: H
authors.initials: H
authors.lastname: Najmabadi
authors.affiliation: Department of Nephrology,Ali Asghar Children's Hospital,Tehran,Iran.
authors.forename: H
authors.initials: H
authors.lastname: Otukesh
authors.affiliation: Genetics Research Centre,University of Social Welfare and Rehabilitation Sciences,Tehran,Iran.
authors.forename: K
authors.initials: K
authors.lastname: Kahrizi
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005192:Family Health; D005260:Female; D015870:Gene Expression; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007492:Iran; D008297:Male; D017354:Point Mutation; D017422:Sequence Analysis, DNA / Q000379:methods; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: C509766:ATP6V1B1 protein, human; C490181:ATP6V0A4 protein, human; D025262:Vacuolar Proton-Translocating ATPases