Novel MYO15A Variants are Associated with Hearing Loss in the Two Iranian Pedigrees

Abstract

<jats:title>Abstract</jats:title> <jats:p><jats:bold>Background:</jats:bold> Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods.<jats:bold>Methods:</jats:bold> This study was a report on two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. <jats:bold>Results:</jats:bold> The implementation of WES to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) and its related variants was reported in the present study. Two novel variants of <jats:italic>MYO15A</jats:italic> i.e. <jats:italic>c.T6442A:p.W2148R</jats:italic> and <jats:italic>c.10504dupT:p.C3502Lfs*15</jats:italic> were correspondingly identified and then segregations were confirmed using Sanger sequencing. According to online prediction tools, both identified variants seemed to have damaging effects.<jats:bold>Conclusion:</jats:bold> This study further supported the effectiveness of WES for genetic diagnosis of ARNSHL as a first approach.</jats:p>