p.R376X: The most frequent mutation on CDC14A gene in Iranian deaf patients tends to create male infertility

Background: Mutations in the CDC14A gene, Cell Division-Cycle 14A, that encodes a conserved dual-specificity phosphor protein-phosphatase are cause of autosomal-recessive mild to profound hearing loss which is associated with male infertility in some cases. Materials and Methods: Next Generation Sequencing for detecting mutation in six unrelated Iranian families with prelingual sensorineural moderate to profound hearing loss was performed, who were negative for GJB2 and GJB6 gene mutations. Results: We identified one novel frameshift mutation p.A451fs (c.1351_1352del) in one family and two previously reported stop gain mutations; p.R376X (c.1126C> T) in four families and p.R345X (c.1033C> T) in one family with consanguineous marriage, three of these families have been shown sperm imotility . Discussion: According to our results and previous studies by other groups on CDC14A gene, 9 out of 16 (more than 50%) families that had mutation on this gene are from Iranian population, which demonstrate the high frequency of CDC14A gene mutations in Iranian deaf patients . Up to now, the p.R376X mutation has been detected just in 6 Iranian families and was not identified in any other populations with hereditary hearing loss related to CCD14A gene . Conclusion: The p.R376X maybe is a founder effect mutation in Iranian deaf patients and CDC14A mutant can give rise to male infertility in association with sensorineural hearing loss.

کلیدواژه ها:

CDC14A gene ، p.R376X mutation ، ARNSHL ، sperm immotility ، Iranian