ReviewJournal of medical genetics2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Review in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- Evaluating the Performance of Traditional Pharmacoepidemiologic and Machine Learning Models to Predict Pregnancies at Risk of Major Congenital Malformations.Birth defects research · 2026Article
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.Journal of neuromuscular diseases · 2026Article
- Fine-scale structure of a whole regional population through genetics and genealogies.Nature communications · 2026Article
- Using the ancestral recombination graph to study the history of rare variants in founder populations.American journal of human genetics · 2025Article
- Rare diseases load through the study of a regional population.PLoS genetics · 2025Article
- Rare variants and founder effect in the Beauce region of Quebec.Communications biology · 2025Article
- Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.medRxiv : the preprint server for health sciences · 2025Article
- Diagnostic challenges and clinico-genetic features in ARSACS: A case series.Current journal of neurology · 2025Article
- 25-Year Comparison of Coronary Lesions Anatomy in Two Cohorts of French Canadians with Familial Hypercholesterolemia.Journal of clinical medicine · 2025Article
- Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.Genetics in medicine open · 2025Article
- HeterozygousFrontiers in physiology · 2025Article
- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- Bacterial Biomarkers of the Oropharyngeal and Oral Cavity during SARS-CoV-2 Infection.Microorganisms · 2023Article
- Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study.Lipids in health and disease · 2023Article
- Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.BMC medical genomics · 2022Article
- Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.International journal of molecular sciences · 2022Review
- Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Saguenay-Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century and continuing within Quebec until the beginning of the 20th century. The genetic structure of the SLSJ population is considered to be the product of a triple founder effect and is characterised by a higher prevalence of some rare genetic diseases. Several studies were performed to elucidate the historical, demographic and genetic background of current SLSJ inhabitants to assess the origins of these rare disorders and their distribution in the population. Thanks to the development of new sequencing technologies, the genes and the variants responsible for the most prevalent conditions were identified. Combined with other resources such as the BALSAC population database, identifying the causal genes and the pathogenic variants allowed to assess the impacts of some of these founder mutations on the population health and to design precision medicine public health strategies based on carrier testing. Furthermore, it stimulated the establishment of many public programmes.We report here a review and an update of a subset of inherited disorders and founder mutations in the SLSJ region. Data were collected from published scientific sources. This work expands the knowledge about the current frequencies of these rare disorders, the frequencies of other rare genetic diseases in this population, the relevance of the carrier tests offered to the population, as well as the current available treatments and research about future therapeutic avenues for these inherited disorders.
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