Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Screening of OTOF mutations in Iran: A novel mutation and review

(2012) Screening of OTOF mutations in Iran: A novel mutation and review. International Journal of Pediatric Otorhinolaryngology. pp. 1610-1615. ISSN 0165-5876

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Abstract

Objective: Mutations in OTOF have been reported to cause nonsyndromic hearing loss in different populations. The purpose of this study is screening of OTOF mutations in Iranian population. Methods: Thirty-eight consanguineous families affected with autosomal recessive nonsyndromic hearing loss (ARNSHL) and negative for GJB2 or GJB6 mutations were screened by autozygosity mapping and Sanger sequencing to find OTOF mutations. Results: A novel homozygous frameshift mutation (c.1981dupG) was found to cause hearing loss in one family and no other OTOF variants were detected in the remaining families. The affected individuals were homozygous forp. D661GfsX2 causing defect in long isoform of otoferlin. Conclusions: We conclude that OTOF mutations are not the major cause of ARNSHL in the Iranian population but still may play an important role in HL; therefore evaluation the OTOF gene is of concern. (C) 2012 Elsevier Ireland Ltd. All rights reserved.

Item Type: Article
Keywords: OTOF ARNSHL Hearing loss Auditory neuropathy Iranian population Synaptopathy and deafness sensitive auditory neuropathy otoferlin gene otof autosomal recessive deafness syndromic hearing-loss encoding otoferlin gjb2 mutations dfnb9 form variability prevalence Otorhinolaryngology Pediatrics
Page Range: pp. 1610-1615
Journal or Publication Title: International Journal of Pediatric Otorhinolaryngology
Journal Index: ISI
Volume: 76
Number: 11
Identification Number: https://doi.org/10.1016/j.ijporl.2012.07.030
ISSN: 0165-5876
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/767

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