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Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families

Published online by Cambridge University Press:  15 December 2014

F Zeinali ,
M Mohseni ,
M Fadaee ,
Z Fattahi ,
H Najmabadi ,
H Otukesh  and
K Kahrizi
F Zeinali
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
M Mohseni
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
M Fadaee
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Z Fattahi
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
H Najmabadi
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
H Otukesh
Affiliation:
Department of Nephrology, Ali Asghar Children's Hospital, Tehran, Iran
K Kahrizi*
Affiliation:
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
*
Address for correspondence: Dr K Kahrizi, Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran Fax: 009822180138 E-mail: [email protected]
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Abstract

Background:

Hearing defects are the most common sensory disorders, affecting 1 out of every 500 newborns. ATP6V1B mutations are associated with early sensorineural hearing loss, whereas ATP6V0A4 mutations are classically associated with either late-onset sensorineural hearing loss or normal hearing. ATP6V1B1 and ATP6V0A4 genetic mutations cause recessive forms of distal renal tubular acidosis.

Method:

Ten unrelated deaf Iranian families with distal renal tubular acidosis were referred to the Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran. All exons of the ATP6V1B1 and ATP6V0A4 genes were sequenced in affected family members.

Results:

We identified a previously reported ATP6V1B1 frameshift mutation (P385fsX441) in two families and a nucleotide substitution in exon 10 (P346R) in three families. In addition, one patient was homozygous for a novel nucleotide substitution in exon 3.

Conclusion:

ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families.

Keywords

Distal Renal Tubular AcidosisHearing Loss, SensorineuralDNA SequenceMutation
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 128 , Issue 12 , December 2014 , pp. 1056 - 1059
Copyright
Copyright © JLO (1984) Limited 2014 

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References

1Hilgert, N, Smith, RJ, Van Camp, G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189–96CrossRefGoogle ScholarPubMed
2Babanejad, M, Fattahi, Z, Bazazzadegan, N, Nishimura, C, Meyer, N, Nikzat, N et al. A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. Am J Med Genet A 2012;158A:2485–92Google Scholar
3Toriello, HV, Reardon, W, Gorlin, RJ eds. Hereditary Hearing Loss and its Syndromes, 2nd edn. Oxford Monographs On Medical Genetics No 50. Oxford: Oxford University Press, 2004;502Google Scholar
4Piatto, VB, Nascimento, ECT, Alexandrino, F, Oliveira, CA, Lopes, ACP, Sartorato, EL et al. Molecular genetics of nonsyndromic deafness. Braz J Otorhinolaryngol 2005;71:216–23CrossRefGoogle Scholar
5Saadat, M, Ansari-Lari, M, Farhud, DD. Consanguineous marriage in Iran. Ann Hum Biol 2004;31:263–9CrossRefGoogle ScholarPubMed
6Rodríguez Soriano, J. Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 2002;13:2160–70CrossRefGoogle ScholarPubMed
7Tekin, M, Arnos, KS, Pandya, A. Advances in hereditary deafness. Lancet 2001;358:1082–90Google Scholar
8Lang, 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:C1187–208Google Scholar
9Karet, FE, Finberg, KE, Nelson, RD, Nayir, A, Mocan, H, Sanjad, SA et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999;21:84–90CrossRefGoogle ScholarPubMed
10Karet, FE, Finberg, KE, Nayir, A, Bakkaloglu, A, Ozen, S, Hulton, SA et al. Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to7q33–34. Am J Hum Genet 1999;65:1656–65Google Scholar
11Smith, AN, Skaug, J, Choate, KA, Nayir, A, Bakkaloglu, A, Ozen, S, et al. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000;26:71–5Google Scholar
12Jouret, F, Auzanneau, C, Debaix, H, Wada, GH, Pretto, C, Marbaix, E et al. Ubiquitous and kidney-specific subunits of vacuolar H+-ATPase are differentially expressed during nephrogenesis. J Am Soc Nephrol 2005;16:3235–46Google Scholar
13Karet, FE. Inherited distal renal tubular acidosis. J Am Soc Nephrol 2002;13:2178–84Google Scholar
14Swayamprakasam, AP, Stover, E, Norgett, E, Blake-Palmer, KG, Cunningham, MJ, Karet, FE. Importance of early audiologic assessment in distal renal tubular acidosis. Int Med Case Rep J 2010;4:7–11Google ScholarPubMed
15Nikki, R, Martin, B, Gus, O, Mato, N, Elena, T, Paul, G. Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness. Case Rep Pediatr 2012;2012:605053Google Scholar
16Borthwick, KJ, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J Med Genet 2003;40:115–21CrossRefGoogle ScholarPubMed