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

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’ c...

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Bibliographic Details
Published in:Human genetics 2022-04, Vol.141 (3-4), p.607-622
Main Authors: Cruz Marino, Tania, Tardif, Jessica, Leblanc, Josianne, Lavoie, Janie, Morin, Pascal, Harvey, Michel, Thomas, Marie-Jacqueline, Pratte, Annabelle, Braverman, Nancy
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Development and progression
Etiology
Family
Family medicine
Founder effect
Gene Function
GJB2 protein
Hearing loss
Human Genetics
Medical genetics
Medical laboratories
Metabolic Diseases
Molecular Medicine
Original Investigation
Otolaryngology
Pediatrics
Population
The Molecular Genetics of Hearing and Deafness
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-021-02332-w