Screening of OTOF mutations in Iran: a novel mutation and review.
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.
Medical Genetic Group, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran. nmahdieh@yahoo.com
Nejat
N
Mahdieh
Atefeh
A
Shirkavand
Bahareh
B
Rabbani
Mustafa
M
Tekin
Bahman
B
Akbari
Mohammad Taghi
MT
Akbari
Sirous
S
Zeinali
D000072259:Connexin 26; D017630:Connexins; D003241:Consanguinity; D016368:Frameshift Mutation; D034381:Hearing Loss / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007492:Iran; D008565:Membrane Proteins / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics
D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; C118457:OTOF protein, human; D020033:Protein Isoforms; D000072259:Connexin 26