792
Views
8
CrossRef citations to date
0
Altmetric
Laboratory Study

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

, , , &
Pages 1281-1284 | Received 12 Apr 2013, Accepted 28 Jun 2013, Published online: 07 Aug 2013

References

  • Sharifian M, Esfandiar N, Mazaheri S, et al. Distal renal tubular acidosis and its relationship with hearing loss in children: preliminary report. Iran J Kidney Dis. 2010;4:202–206
  • Sethi SK, Singh N, Gil H, Bagga A. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness. Indian Pediatr. 2009;46:425–427
  • Nance WE, Sweeney A. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Birth Defects Orig Art Ser. 1971;7:70–72
  • Karet FE, Finberg KE, Nelson RD, et al. Mutations in the gene encoding B1 subunit of H(+)-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genet. 1999;21:84–90
  • Andreucci E, Bianchi B, Carboni I, et al. Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity. Pediatr Nephrol. 2009;24:2147–2153
  • Hahn H, Kang HG, Ha IS, Cheong HI, Choi Y. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child. Am J Kidney Dis. 2003;41:238–243
  • Borthwick KJ, Kandemir N, Topaloglu R, et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet. 2003;40:115–121
  • Stover EH, Borthwick KJ, Bavalia C, et al. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. J Med Genet. 2002;39:796–803
  • Gil H, Santos F, García E, et al. Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. Pediatr Nephrol. 2007;22:825–828
  • Vargas-Poussou R, Houillier P, Le Pottier N, et al. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006;17:1437–1443
  • Ruf R, Rensing C, Topaloglu R, et al. Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol. 2003;18:105–109
  • Yashima T, Noguchi Y, Kawashima Y, Rai T, Ito T, Kitamura K. Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss. Acta Otolaryngol. 2010;130:1002–1008
  • Elia A, Voskarides K, Demosthenous P, et al. Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis. Nephron Clin Pract. 2011;117:206–212
  • Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the b1 subunit of h+-atpase have normal hearing. Hear Res. 2003;180:76–84
  • Nikali K, Vanegas JJ, Burley MW, et al. Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. Am J Med Genet A. 2008;146:2709–2712

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.