title: Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
abstract: Distal renal tubular acidosis (RTA) with sensorineural deafness is a rare entity, inherited in an autosomal recessive manner. It is caused by mutations in the ATP6V1B1 gene, leading to defective function of H+-ATPase pump in the distal nephron, cochlea and endolymphatic sac. We report two siblings with distal RTA and sensorineural deafness having mutation in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sidharth Kumar
authors.initials: SK
authors.lastname: Sethi
authors.forename: Niranjan
authors.initials: N
authors.lastname: Singh
authors.forename: Helena
authors.initials: H
authors.lastname: Gil
authors.forename: Arvind
authors.initials: A
authors.lastname: Bagga
mesh_terms: D000141:Acidosis, Renal Tubular / Q000097:blood / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D006180:Proton-Translocating ATPases / Q000097:blood / Q000235:genetics; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics*
chemical_list: C509766:ATP6V1B1 protein, human; D025262:Vacuolar Proton-Translocating ATPases; D006180:Proton-Translocating ATPases