Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Indian Pediatr
;
2009 May; 46(5): 425-427
Article
in English
| IMSEAR
| ID: sea-144038
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Acidosis, Renal Tubular
/
Female
/
Humans
/
Child, Preschool
/
Proton-Translocating ATPases
/
Vacuolar Proton-Translocating ATPases
/
Hearing Loss, Sensorineural
/
Infant
Language:
English
Journal:
Indian Pediatr
Year:
2009
Type:
Article
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