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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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