Screening of OTOF mutations in Iran: a novel mutation and review.

Authors: Mahdieh, N  Shirkavand, A  Rabbani, B  Tekin, M  Akbari, B  Akbari, MT  Zeinali, S 
Citation: Mahdieh N, etal., Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610-5. doi: 10.1016/j.ijporl.2012.07.030. Epub 2012 Aug 18.
Pubmed: (View Article at PubMed) PMID:22906306
DOI: Full-text: DOI:10.1016/j.ijporl.2012.07.030

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.

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CRRD Object Information
CRRD ID: 9585724
Created: 2014-09-22
Species: All species
Last Modified: 2014-09-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.