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Iranian Journal of Otorhinolaryngology، جلد ۳۳، شماره ۳، صفحات ۱۷۳-۱۷۶
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عنوان انگلیسی Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss
چکیده انگلیسی مقاله Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder. Case Report: We carried out whole exome sequencing (WES) to screen hearing loss candidate genes in a member of an Iranian family with hearing loss. The Sanger process was used to sequencing the variant in the family members. A novel mutation (c. 559C > T) was found in the WFS1 gene (in exon 5) in the patient leading to a heterozygous missense mutation (p.L187F). Furthermore, it co-segregated with HL in the family. All affected individuals in the family had severe-to-profound HL. Conclusion: This survey is the first to describe WFS1 related HL in the Iranian population. Our data propose that the WFS1-p.L187F mutation is the pathogenic variant for autosomal dominant nonsyndromic hearing loss. Our results extend the range of the WFS1 gene mutations.
کلیدواژه‌های انگلیسی مقاله Hearing Loss, Novel Mutation, Next Generation Sequencing (NGS), Whole Exome Sequencing (WES), WFS1
نویسندگان مقاله | Javad Mohammadi Asl
Noorgene Genetics Lab, Ahvaz, Iran.


| Nader Saki
Hearing Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.


| Masoud Dehdashtiyan
Department of the Pediatrics, Imam Khomeini Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.


| Mostafa Neissi
Department of Genetics, Khuzestan Science and Research Branch, Islamic Azad University, Ahvaz, Iran. Department of Genetics, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.


| Farideh Ghanbari Mardasi
Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی https://ijorl.mums.ac.ir/article_17922.html
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نوع مقاله منتشر شده Case Report
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