Mitochondrial mutations in non-syndromic hearing loss at UAE. (November 2020)

• Record Type: Journal Article
• Authors: Mohamed, Walaa Kamal Eldin; Arnoux, Marc; Cardoso, Thyago H.S.; Almutery, Abdullah; Tlili, Abdelaziz
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 138(2020:Nov.)
• Publication Date: 2020-11
• Subjects: Mitochondrial mutation -- U.A.E -- Non-syndromic hearing loss; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2020.110286
• Languages: English
• ISSNs: 0165-5876

Abstract

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.