Mitochondrial mutations in non-syndromic hearing loss at UAE

Walaa Kamal Eldin Mohamed, Marc Arnoux, Thyago H.S. Cardoso, Abdullah Almutery, Abdelaziz Tlili

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number110286
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume138
DOIs
StatePublished - Nov 2020

Keywords

  • Mitochondrial mutation
  • Non-syndromic hearing loss
  • U.A.E

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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