Autosomal recessive distal renal tubular acidosis is caused by mutations of the ATP6V1B1 gene.
Deafness | |
Sensorineural deafness is typical of ATP6V1B1 mutations. |
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. |
Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. |
3. |
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4. |
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5. |
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6. |
Shapira E et al. (1974) Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis. |
7. |
Cohen T et al. (1973) Familial infantile renal tubular acidosis and congenital nerve deafness: an autosomal recessive syndrome. |
8. |
Anai T et al. (1984) Siblings with renal tubular acidosis and nerve deafness. The first family in Japan. |
9. |
Cremers CW et al. (1980) Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. |
10. |
Tashian RE et al. (1980) Inherited variants of human red cell carbonic anhydrases. |
11. |
Dunger DB et al. (1980) Renal tubular acidosis and nerve deafness. |
12. |
Karet FE et al. (1999) Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. |
14. |
Nikali K et al. (2008) Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. |
15. |
OMIM.ORG article Omim 267300 |