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.

Saguenay-Lac-Saint-Jean 的法裔加拿大人口以其同质的遗传背景而闻名。听力损失的遗传原因以前在该人群中未被探索过。在 2015 年 6 月至 2021 年 3 月期间，患有听力损失的人从耳鼻喉科、儿科和家庭医生诊所转诊到萨格奈-拉克-圣让综合大学的医学遗传学服务中心。制定了评价策略。来自 41 个家庭的 63 名个体的样本被独立送到不同的分子临床实验室，并通过综合多基因面板分析指示病例，诊断率为 54%。在 12 个基因中鉴定出 16 种听力损失致病变异，其中八种变体以前未在文献中报道过。四个基因中存在反复变异，表明可能存在创始人效应，而GJB2基因变异很少。作为提议的临床评估策略的一部分，全面的多基因面板方法为该人群提供了高诊断率。