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First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population

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Abstract

The French-Canadian population of Saguenay-Lac-Saint-Jean is known for its homogenous genetic background. The hereditary causes of hearing loss were previously unexplored in this population. Individuals with hearing loss were referred from the otorhinolaryngology, pediatrics and family physicians’ clinics to the medical genetics service at the Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean between June 2015 and March 2021. A regional clinical evaluation strategy was developed. Samples from 63 individuals belonging to 41 families were sent independently to different molecular clinical laboratories and index cases were analyzed through comprehensive multigene panels, with a diagnostic rate of 54%. Sixteen hearing loss causal variants were identified in 12 genes, with eight of these variants not been previously reported in the literature. Recurrent variants were present in four genes, suggesting a possible founder effect, while GJB2 gene variants were scarce. A comprehensive multigene panel approach as part of the proposed clinical evaluation strategy offers a high diagnostic yield for this population.

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Acknowledgements

We would like to thank the Molecular Otolaryngology and Renal Research Laboratory for their contribution to the molecular diagnosis of some of the families here presented. We also thank the health professionals taking care of all these families.

Funding

No funding was received for conducting this study.

Author information

Author notes

  1. Tania Cruz Marino and Jessica Tardif have equally contributed.

Authors and Affiliations

  1. Department of Laboratory Medicine, CIUSSS Saguenay-Lac-St-Jean, Saguenay-Lac-Saint-Jean, Canada

    Tania Cruz Marino, Jessica Tardif, Josianne Leblanc, Marie-Jacqueline Thomas & Annabelle Pratte

  2. Department of Otolaryngology-Head and Neck Surgery, CIUSSS Saguenay-Lac-St-Jean, Saguenay-Lac-Saint-Jean, Canada

    Janie Lavoie, Pascal Morin & Michel Harvey

  3. Division of Medical Genetics, Department of Pediatrics and Human Genetics, McGill University, Montreal, Canada

    Nancy Braverman

Authors
  1. Tania Cruz Marino
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  2. Jessica Tardif
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  3. Josianne Leblanc
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  4. Janie Lavoie
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  5. Pascal Morin
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  6. Michel Harvey
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  7. Marie-Jacqueline Thomas
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  8. Annabelle Pratte
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  9. Nancy Braverman
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Corresponding author

Correspondence to Tania Cruz Marino.

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Conflict of interest

The authors declare no conflict of interest or competing interest.

Ethical approval

The CIUSSS Saguenay-Lac-St-Jean Research Ethics Committee has confirmed that no ethical approval is required, in view of the nature of the study, since all procedures were performed as part of the routine clinical care.

Data availability

Upon request to the corresponding author, the unpublished data related to this study will be available. The previously unpublished DNA variants identified in this study have been submitted to the public genetic database ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/).

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Not applicable.

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Written informed consent for testing was obtained from participants (patients or their legal guardian).

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Cruz Marino, T., Tardif, J., Leblanc, J. et al. First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population. Hum Genet 141, 607–622 (2022). https://doi.org/10.1007/s00439-021-02332-w

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  • DOI: https://doi.org/10.1007/s00439-021-02332-w

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