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Research ArticleOriginal Article
Open Access

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy

Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi and Guy van Camp
Saudi Medical Journal October 2016, 37 (10) 1068-1075; DOI: https://doi.org/10.15537/smj.2016.10.14967
Nadia M. Al-Wardy
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
PhD
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  • For correspondence: [email protected]
Mohammed N. Al-Kindi
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
MSc
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Mazin J. Al-Khabouri
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
FRCS, PhD
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Yahya Tamimi
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
PhD
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Guy van Camp
From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
PhD
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Article Information

vol. 37 no. 10 1068-1075
DOI 
https://doi.org/10.15537/smj.2016.10.14967
PubMed 
27652356

Published By 
Saudi Medical Journal
Online ISSN 
1658-3175
History 
  • Received March 9, 2016
  • Accepted July 11, 2016
  • Published online October 1, 2016.

Copyright & Usage 
Copyright: © Saudi Medical Journal This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Information

  1. Nadia M. Al-Wardy, PhD⇑,
  2. Mohammed N. Al-Kindi, MSc,
  3. Mazin J. Al-Khabouri, FRCS, PhD,
  4. Yahya Tamimi, PhD and
  5. Guy van Camp, PhD
  1. From the Department of Biochemistry (Al-Wardy, Al-Kindi, Tamimi), College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, the Department of Otolaryngology and Head and Neck Surgery (Al-Khabouri), Al Nahda Hospital, Ministry of Health, Muscat, Oman, Al-Khoud, Sultanate of Oman, and the Centre of Medical Genetics (van Camp), University of Antwerp, Antwerpen, Belgium
  1. Address correspondence and reprint request to: Dr. Nadia M. Al-Wardy, Department of Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, Al-Khoud, Oman. E-mail: naiwardi{at}squ.edu.om
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    American Journal of Translational Research 2025 17 3
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A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy
Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi, Guy van Camp
Saudi Medical Journal Oct 2016, 37 (10) 1068-1075; DOI: 10.15537/smj.2016.10.14967

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A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy
Nadia M. Al-Wardy, Mohammed N. Al-Kindi, Mazin J. Al-Khabouri, Yahya Tamimi, Guy van Camp
Saudi Medical Journal Oct 2016, 37 (10) 1068-1075; DOI: 10.15537/smj.2016.10.14967
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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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