Iranian Journal of Otorhinolaryngology، جلد ۳۶، شماره ۱، صفحات ۳۵۵-۳۶۰
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عنوان انگلیسی A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss
چکیده انگلیسی مقاله Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL. Case Report: Here, we present a nonsyndromic HL (NSHL) case report. The patient is a 21-year-old man with progressive HL. The whole-exome sequencing (WES) demonstrated a novel homozygous missense mutation, c.9908A>C; p.Lys3303Thr, in the proband's exon 61 of the MYO15A gene. Further analysis has revealed that the detected mutation is present in a heterozygous state in the parents. Conclusion: Our WES analysis revealed a novel mutation in the MYO15A gene. Our data indicates that the MYO15A-p.Lys3303Thr mutation is the likely pathogenic variant associated with NSHL. Additionally, this finding enhances genetic counseling for individuals with NSHL patients, highlighting the value of the WES method in detecting rare genetic variants.
کلیدواژه‌های انگلیسی مقاله Hearing Loss, MYO15A gene, Mutation
نویسندگان مقاله | 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.


| Adnan Al-Badran
Department of Biology, College of Science, University of Basrah, Basrah, Iraq.


| Javad Mohammadi-Asl
Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
نشانی اینترنتی https://ijorl.mums.ac.ir/article_23663.html
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نوع مقاله منتشر شده Case Report
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