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Pediatric Otolaryngology

(229) Hearing Loss-associated Genetic Variants in a Large Canadian Cohort

Monday, October 2, 2023
2:45 PM – 3:45 PM East Coast USA Time
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    Presenting Author(s)

  • Emily R. Wener, BSc

    Medical Student
    University of Ottawa
    Ottawa, Ontario, Canada

    • Co-Author(s)

  • Sharon L. Cushing, MD, MSc

    Professor
    Department of Otolaryngology-Head and Neck Surgery, University of Toronto, Hospital for Sick Children
    Toronto, Ontario, Canada

  • NQ

    Nada Quercia, MSc

    Division of Clinical & Metabolic Genetics, The Hospital for Sick Children; Department of Genetic Counselling, The Hospital for Sick Children; Department of Molecular Genetics, The Hospital for Sick Children, USA

  • BP

    Blake C. Papsin, MD, MSc

    Professor
    Department of Otolaryngology-Head and Neck Surgery, University of Toronto, Hospital for Sick Children
    Toronto, Ontario, USA

  • JS

    James Stavropoulos, PhD

    Genome Diagnostics Paediatric Laboratory Medicine, Clinical and Metabolic Genetics, The Hospital for Sick Children, USA

  • RM

    Roberto Mendoza, MD, MSc

    Genome Diagnostics Paediatric Laboratory Medicine, Clinical and Metabolic Genetics, The Hospital for Sick Children, USA

  • KG

    Karen Gordon, PhD

    Archie’s Cochlear Implant Laboratory, Neuroscience & Mental Health, Hospital for Sick Children, USA

    • Senior Author(s)

  • KG

    Karen Gordon, PhD

    Archie’s Cochlear Implant Laboratory, Neuroscience & Mental Health, Hospital for Sick Children, USA

Disclosure(s):
Emily R. Wener, BSc: No relevant relationships to disclose.
Sharon L. Cushing, MD, MSc: No relevant relationships to disclose.


Introduction: Genetic variants associated with childhood hearing loss may be particular to region and cultural or ethnic background. This study aimed to identify genetic etiologies in a large Canadian cohort of children with hearing loss.

Methods: Genes associated with hearing loss were assessed using Next Generation Sequencing (NGS) in 485 children with hearing loss at a tertiary pediatric hospital in Toronto, Ontario, Canada between January 2015 and February 2018. Genetic variants were classified as pathogenic (PV), likely pathogenic (LP), likely benign, benign, or variants of uncertain significance (VUS), according to guidelines from the American College of Medical Genetics and Genomics.

Results: Many variants (n=923) were reported and most children had at least one reported variant (324/485, 66.8%). Most variants (748/923, 81.0%, in 76/80 genes) were of uncertain significance. Pathogenic variants (PV or LP) with inheritance patterns indicative of genetic hearing loss were found in 73/485 (15.1%) of children and 19/80 (23.8%) of genes tested. Genetic hearing loss was most commonly due to GJB2 variants, affecting 28/73 (38.4%) of children in our cohort.

Conclusions: Genetic hearing loss was identified in ~15% of a large Canadian cohort and was most often due to GJB2 mutations. This is a lower rate than typically reported and may reflect our multi-cultural cohort who had mild to profound hearing loss and/or more conservative interpretations of variants at our Institution..