Two new mutations, ESPN c.2257T>C and ESRRB c.10583 C>A, cause hearing loss in UAE families

Background: Nonsyndromic hearing loss (NSHL) is a genetic disorder affecting many populations. Several genes are responsible for NSHL, and their contribution is different amongst ethnic groups. ESPN and ESRRB genes are responsible for the recessive DFNB36 and DFNB35 deafness forms, respectively. Aims and Objectives: In the present study, we aimed to identify the responsible mutations in two different UAE families with autosomal NSHL. Materials and Methods: Whole and clinical exomes sequencing were performed. Potential variants were verified by Sanger sequencing and PCR-RFLP. Bioinformatics tools were used to predict the impact of the new mutations. Results: In two UAE families, whole and clinical exomes sequencing generated several DNA variants. Sanger sequencing, segregation and bioinformatics analyses revealed two new homozygous mutations responsible for deafness. These two novel mutations are ESPN c.2257T>C and ESRRB c.10583 C>A. Conclusion: This study reports for the first time new mutations within ESPN and ESRRB genes responsible for NSHL in the Middle East region.