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Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.

Khawla El FizaziMeriame AbbassiSamira NmerHajar LaamartiMohamed Noureddine ElAlamiKarim OuldimLaila BouguenouchMohammed Ridal
Published in: Audiology & neuro-otology (2024)
Our study confirms a high prevalence of GJB2 variants in the Moroccan population, particularly the c.35delG mutation. Additionally, we have identified previously unreported or rarely reported mutations, revealing a greater diversity of GJB2 mutations. These findings emphasize the importance of comprehensive screening beyond the 35delG mutation for patients with NSHL, regardless of their family history. Integrating this approach into clinical care will enhance diagnosis and management of hearing loss in the Moroccan population.
Keyphrases
  • hearing loss
  • healthcare
  • palliative care
  • gene expression
  • quality improvement
  • copy number
  • dna methylation