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Acta Medica Iranica، جلد ۵۹، شماره ۳، صفحات ۱۷۷-۱۸۱
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عنوان انگلیسی Identification of a Novel Frameshift Mutation in the TECTA Gene in an Iranian Family With Autosomal Nonsyndromic Hearing Loss
چکیده انگلیسی مقاله Hearing loss (HL) is one of the most frequent birth defects, and genetic factors contribute to the pathogenesis of the disorder in about half of the patients. In the present study, we performed whole-exome sequencing (WES) based on Next-generation sequencing (NGS) in an Iranian family with hereditary HL. Then, Sanger sequencing was used to verify the segregation of the variant recognized in affected family members. A novel homozygous frameshift variation, c.649-650insC, in TECTA was found in the family, which might lead to a truncated TECTA protein (p. Asn218Gln fsX31). Our findings propose that the homozygous TECTA-p.N218QfsX31 mutation is the pathogenic variant for ARNSHL. To the best of our knowledge, this mutation has not been described in patients with the HL phenotype and so far has not to be reported in any of the mutation databases. Our data expand the spectrum of mutations in the TECTA gene in nonsyndromic hearing loss.
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نویسندگان مقاله | Javad Mohammadi-Asl
Hearing Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.


| Nader Saki
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran


| Majid Karimi
Hearing Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran


| Farideh Ghanbari Mardasi
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی https://acta.tums.ac.ir/index.php/acta/article/view/8632
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