Article
Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.
Biochemical genetics - 1 Aug 2026
Reinoso-Castillo Anghela, Ramzan Memoona, Carrera-Gonzalez Andrea, Rivas-Iglesias Christian, Montufar Stefanny, Vinueza-Gavilanes Rodrigo, Smith Carson, Llamos-Paneque Arianne, Tekin Mustafa
Abstract excerpt
The genetic etiology of hearing loss (HL) in Ecuador remains largely unexplored. This study investigates the spectrum of genetic variants associated with HL in a cohort of 66 Ecuadorian families using Exome or Genome sequencing (ES/GS). We identified pathogenic and likely pathogenic variants underlying HL in 27 families (41%). While variants were detected in 15 different genes, only GJB2 (in 12 families) and TMC1...
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