Analysis of CABP2 c.637+1G>T Mutation in Iranian Patients with Non-Syndromic Sporadic Hearing Loss

The most common sensorineural defect in human is congenital hearing loss and genes have an incontestable role in the development of this defect. Many genetic mutations are known to be responsible in this heterogeneous disease. The most frequent mutations are GJB2 mutations followed by the SLC26A4 mutations. Recently، we published a report regarding the role of c. 637+1G>T mutation in CABP2 gene، causing hearing loss in three Iranian families. The present study was launched to analyze the role of this recently reported mutation in patients with sporadic hearing loss. One hundred and eighty three patients with moderate to profound sporadic hearing loss were included in this study. The mutation c. 637+1 G>T was investigated in patients using the PCR-RFLP method. PCR-RFLP findings revealed that the considered mutation was absent in subjects with sporadic hereditary hearing loss. The mutation c. 637+1 G>T in CABP2 gene did not play any roles in the investigated Iranian patients with sporadic hearing loss. Larger samples of different populations، and assessment of all exons and the promoter region of mentioned gene will help to determine the real role of this gene in producing hearing loss.