Autosomal recessive distal renal tubular acidosis is caused by mutations of the ATP6V0A4 gene. It is not typically associated with deafness thought hearing loss does not exclude this disease.
1. |
Stover EH et al. (2002) Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. |
2. |
Karet FE et al. (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. |
3. |
Karet FE et al. (1999) Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. |
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Smith AN et al. (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. |
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None (1964) SOME OBSERVATIONS OF RENAL TUBULAR ACIDOSIS--A FAMILY STUDY. |
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OMIM.ORG article Omim 602722 |