Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
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Date
2009-05
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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 C>T in the first coding exon of the gene, resulting in a non functional protein. The parents were found to be carriers for the mutation.
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Keywords
ATP6V1B1 gene, Renal tubular acidosis, Sensorineural deafness
Citation
Sethi Sidharth Kumar, Singh Niranjan, Gil Helena, Bagga Arvind. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Indian Pediatrics. 2009 May; 46(5): 425-427.