Publications by authors named "Marie-Jacqueline Thomas"
The population of the Saguenay-Lac-Saint-Jean (SLSJ) region, located in the province of Quebec, Canada, is recognized as a founder population, where some rare autosomal recessive diseases show a high prevalence. Through the clinical and molecular study of 82 affected individuals from 60 families, this study outlines 12 diseases identified as recurrent in SLSJ. Their carrier frequency was estimated with the contribution of 1059 healthy individuals, increasing the number of autosomal recessive diseases with known carrier frequency in this region from 14 to 25.
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- The French-Canadian population of Saguenay-Lac-Saint-Jean has a unique genetic background, and the hereditary causes of hearing loss in this group were previously not studied.
- Between June 2015 and March 2021, individuals with hearing loss were evaluated by a regional medical genetics service, leading to the analysis of samples from 63 people in 41 families.
- A comprehensive multigene panel approach revealed a diagnostic rate of 54%, identifying 16 causal variants in 12 genes, with some variants being novel and suggesting a founder effect in certain genes.