ATP6V1B1 —A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis

Key Points

• The aim is to explore the genetic connection between hearing loss and renal tubular acidosis, specifically focusing on ATP6V1B1.
• Genetic analysis of individuals with sensorineural hearing loss and distal renal tubular acidosis.
• Comparison of phenotypic features associated with ATP6V1B1 mutations.
• Identification of ATP6V1B1 as a novel gene linked to Pendred imaging phenotype.
• Association of ATP6V1B1 mutations with increased incidence of renal tubular acidosis in affected individuals.