Detection of OTOF gene mutations in Turkish patients with nonsyndromic hearing loss

Hearing loss is the most frequent auditory disorder and occurs in approximately 1 to 3 of 1,000 children. According to their etiology, hearing loss can be classified into genetic and environment origin. 50% of hearing losses are attributed to genetic causes. Genetic hearing loss can be subdivived into syndromic and non-syndromic hearing loss whether being associated with additional semptoms or isolated, respectivelyNon-syndromic hearing loss accounts for 70% of hearing loss. In nonsyndromic genetic deafness of prelingual onset, autosomal recessive inheritance predominates (80%), but autosomal dominant (20%), X-linked (1%) and mitochondrial inheritance (<1%) have observed. Otoferlin (OTOF) is one of the identified gene related to nonsyndromic hearing lossThe aim of this study was to investigate 6 OTOF gene mutations, which were previously identified in OTOF gene and known to be associated with hearing loss, in nonsyndromic Turkish hearing loss patientsIn this study, none of the 95 Turkish patients with nonsyndromic hearing loss were found to have 6 OTOF gene mutations (Leu1011Pro, Arg1939Gln, Pro1987Arg, Gln829Ter, c.1651delG and c.4799+1G>C). Mutations found in different populations were not encountered in our study therefore it is suggested that there may be some spesific unknown mutations in Turkish population.Key Words: OTOF, Otoferlin, Nonsyndromic hearing loss, PCR, RFLP