255
Views
21
CrossRef citations to date
0
Altmetric
INNER EAR

Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss

, , , , &
Pages 1002-1008 | Received 28 Nov 2009, Accepted 14 Jan 2010, Published online: 16 Mar 2010

References

  • Fry AC, Karet FE. Inherited renal acidosis. Physiology 2007;22:202–11.
  • Royer P, Broyer M. 1967. L'acidose rénale au cours des tubulopathies congénitales. In: Proceedings of Actualités Néphrologiques de l'Hôpital Necker. Paris: Flammarion. p 73–92.
  • Brown MT, Cunningham MJ, Ingelfinger JR, Becker AN. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Arch Otolaryngol Head Neck Surg 1993;119:458–60.
  • Zakzouk SM, Sobki SH, Mansour F, al Anazy FH. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J Laryngol Otol 1995;109:930–4.
  • Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999;21:84–90.
  • Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, 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.
  • Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242–8.
  • Kemperman MH, Koch SM, Joosten FB, Kumar S, Huygen PL, Cremers CW. Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. Arch Otolaryngol Head Neck Surg 2002;128: 1033–8.
  • Ito T, Noguchi Y, Yashima T, Kitamura K. SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. Laryngoscope 2006;116: 796–9.
  • Joshua B, Kaplan DM, Raveh E, Lotan D, Anikster Y. Audiometric and imaging characteristics of distal renal tubular acidosis and deafness. J Laryngol Otol 2008;22:193–8.
  • Kawashima Y, Noguchi Y, Ito T, Kitamura K. Vestibular evoked myogenic potentials in patients with mitochondrial A1555G mutation. Laryngoscope 2009;119:1874–9.
  • Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, 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;17:1437–43.
  • Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2003;18:105–9.
  • 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;41:238–43.
  • Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children. Pediatr Nephrol 2007;22:825–8.
  • Lang F, Vallon V, Knipper M, Wangemann P. Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol 2007;293:C1187–1208.
  • Berrettini S, Forli F, Franceschini SS, Ravecca F, Massimetti M, Neri E. Distal renal tubular acidosis associated with isolated large vestibular aqueduct and sensorineural hearing loss. Ann Otol Rhinol Laryngol 2002;111:385–91.
  • Shinjo Y, Kaga K, Igarashi T. Distal renal tubular acidosis associated with large vestibular aqueduct and sensorineural hearing loss. Acta Otolaryngol 2005;125:667–70.
  • Merchant SN, Nakajima H, Halpin C, Nadol JB Jr, Lee DJ, Innis WP, Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol 2007;116:532–51.
  • Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T. Long-term audiological feature in Pendred syndrome caused by PDS mutation. Arch Otolaryngol Head Neck Surg 2001;127:705–8.
  • Lin CY, Lin S-L, Kao C-C, Wu J-L. The remediation of hearing deterioration in children with large vestibular aqueduct syndrome. Auris Nasus Larynx 2005;32:99–105.
  • Furuhashi A, Sato E, Nakashima T, Miura Y, Nakayama A, Mori N, Hyperbaric oxygen therapy for the treatment of large vestibular aqueduct syndrome. Undersea Hyperb Med 2001;28:195–200.

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.