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It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose. In adults, symptoms appear mainly in the form of psychiatric problems. The prevalence varies from 0.35 to 2.2 per 100,000 births depending on the country. The aim of this study is to calculate the estimated prevalence of NP-C in Quebec to determine if it is underdiagnosed in this population. The CARTaGENE database is a unique database that regroups individuals between 40 and 69\u00a0years old from metropolitan regions of Quebec. RNA-sequencing data was available for 911 individuals and exome sequencing for 198 individuals. We used a bioinformatic pipeline on those individuals to extract the variants in the\n                    <jats:italic>NPC1\/2<\/jats:italic>\n                    genes. The prevalence in Quebec was estimated assuming Hardy\u2013Weinberg Equilibrium. Two pathogenic variants were used. The variant p.Pro543Leu was found in three heterozygous individuals that share a common haplotype, which suggests a founder French-Canadian pathogenic variant. The variant p.Ile1061Thr was found in two heterozygous individuals. Both variants have previously been reported and are usually associated with infantile onset. The estimated prevalence calculated using those two variants is 0.61:100,000 births. This study represents the first estimate of NP-C in Quebec. The estimated prevalence for NP-C is likely underestimated due to misdiagnosis or missed cases. It is therefore important to diagnose all NP-C patients to initiate early treatment.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-01966-0","type":"journal-article","created":{"date-parts":[[2021,11,19]],"date-time":"2021-11-19T06:03:26Z","timestamp":1637301806000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Estimated prevalence of Niemann\u2013Pick type C disease in Quebec"],"prefix":"10.1038","volume":"11","author":[{"given":"Marjorie","family":"Labrecque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lahoud","family":"Touma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Bh\u00e9rer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Duquette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"T\u00e9treault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,19]]},"reference":[{"issue":"2","key":"1966_CR1","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1192\/pb.bp.116.054072","volume":"41","author":"WR Evans","year":"2017","unstructured":"Evans, W. 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