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

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

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

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

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

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