Mitochondrial mutations in non-syndromic hearing loss at UAE

Abstract Introduction Hearing loss (HL) is a common sensory disorder over the world, and it has been estimated that genetic etiology is involved in more than 50% of the cases in developed countries. Both nuclear and mitochondrial genes were reported as responsible for hereditary HL. Mitochondrial mutations leading to HL have so far been reported in the MT-RNR1 gene, mitochondrially encoded 12S rRNA. Methods To study the molecular contribution of mitochondrial 12S rRNA gene mutations in UAE-HL, a cohort of 74 unrelated UAE patients with no gap junction protein beta 2 (GJB2) mutations were selected for mitochondrial 12S rRNA gene mutational screening using Sanger sequencing and whole-exome sequencing. Detected DNA variants were analyzed by bioinformatics tools to predict their pathogenic effects. Results Our analysis revealed the presence of two known deafness mutations; m.669T>C and m.827A>G in two different deaf individuals. Furthermore, whole-exome sequencing was done for these two patients and showed the absence of any nuclear mutations. Our study supports the pathogenic effect of the m.669T>C and m.827A>G mutations and showed that mitochondrial mutations have a contribution of 2.7% in our cohort. Conclusions This is the first report of mtDNA mutations in the UAE which revealed that both variants m.669T>C and m.827A>G should be included in the molecular diagnosis of patients with maternally inherited HL in UAE.