{"id":1581,"date":"2026-07-27T14:37:40","date_gmt":"2026-07-27T18:37:40","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/prevalence-of-variants-in-the-npc1-and-npc2-genes-in-the-quebec-population\/"},"modified":"2026-09-04T11:18:12","modified_gmt":"2026-09-04T15:18:12","slug":"prevalence-of-variants-in-the-npc1-and-npc2-genes-in-the-quebec-population","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/prevalence-of-variants-in-the-npc1-and-npc2-genes-in-the-quebec-population\/","title":{"rendered":"Prevalence of variants in the NPC1 and NPC2 genes in the Quebec population"},"content":{"rendered":"<div class=\"htb htb-hero-simple htb-hero-simple--js   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-1 \" >\n\t<div class=\"container-fluid\">\n\t\t<div class=\"row\">\n\t\t\t<div class=\"col-12 \">\n\t\t\t\t<div class=\"content-box \">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"henri-breadcrumb-box\">\n\t\t\t<nav aria-label=\"breadcrumb\">\n\t\t\t\t<ol class=\"breadcrumb\" itemscope itemtype=\"http:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item \" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t<a href=\"https:\/\/cartagene.qc.ca\/en\/\">Home<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t<a href=\"\/en\/projects\">Projects<\/a><\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<li class=\"breadcrumb-item active\" aria-current=\"page\" itemprop=\"itemListElement\" itemtype=\"http:\/\/schema.org\/ListItem\">Prevalence of variants in the NPC1 and NPC2 genes in the Quebec population<\/li>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/ol>\n\t\t\t<\/nav>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<h1 >Prevalence of variants in the NPC1 and NPC2 genes in the Quebec population<\/h1>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t<\/div>\n<\/div>\n\n\n<div class=\"htb htb-fiche_technique   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-2 \" >\n\n\t\n\t\t\t<div class=\"container-xxl\">\n\t\t\t<div class=\"row\">\n\t\t\t\t<div class=\"col-12\">\n\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Status<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Ongoing<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Start date<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">2018<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Location<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">Quebec<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-grille__rangee\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Researcher<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">T\u00e9treault, Martine<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-carte bg-color color-bleu-blanc\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__label\">Associated institution<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"ft-carte__valeur\">CHUM Research Centre and Universit\u00e9 de Montr\u00e9al<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Summary<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><p>Niemann-Pick disease type C is a rare progressive genetic disorder that primarily affects the nervous system and can be difficult to diagnose because of its highly variable symptoms. This project aims to better understand the frequency of variants in the NPC1 and NPC2 genes in the Quebec population using genomic data from CARTaGENE. The analyses identified several rare variants, including some that had not previously been reported, as well as two pathogenic variants already associated with the disease. The findings suggest an estimated prevalence of approximately 0.61 cases per 100,000 births in Quebec and provide evidence of a possible founder effect for certain variants observed in individuals of French-Canadian ancestry. This work contributes to improving the interpretation of genetic tests, refining estimates of disease prevalence, and may help support earlier diagnosis and improved access to treatment<\/p>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Themes<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Genetics and genomics<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__row row\">\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__label-col col-12 col-lg-4\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"surtitre\">Data types<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__body-col col-12 col-lg-8\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"ft-contenu__texte\"><ul>\n<li>Biochemical and hematological data<\/li>\n<li>Genetic data<\/li>\n<li>Questionnaire data<\/li>\n<\/ul>\n<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\n<\/div>\n\n\n<div class=\"htb htb-liste-posts-simple   default-margin-top  default-margin-bottom  bg-color color-none  htb-uid-3 \" >\n\t<div class=\"container-xxl\">\n\t\t\t\t\t<div class=\"htb-liste-posts-simple-header\">\n\t\t\t\t\t\t\t\t\t<div class=\"header-intro\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t\t\t\t\t\t<h2 >Related resources<\/h2>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\n\t\t\n\t\t\t\t\t<div class=\"row posts-container\">\n\t\t\t\t<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2023\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Caract\u00e9risation de variants g\u00e9n\u00e9tiques pour estimer la pr\u00e9valence de Niemann-Pick type C au Qu\u00e9bec<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/papyrus.bib.umontreal.ca\/xmlui\/handle\/1866\/28037\" target=\"_blank\" rel=\"noopener\" aria-label=\"Caract\u00e9risation de variants g\u00e9n\u00e9tiques pour estimer la pr\u00e9valence de Niemann-Pick type C au Qu\u00e9bec\">Caract\u00e9risation de variants g\u00e9n\u00e9tiques pour estimer la pr\u00e9valence de Niemann-Pick type C au Qu\u00e9bec<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2021\/12\/15\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34913218\" target=\"_blank\" rel=\"noopener\" aria-label=\"Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?\">Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2021\/11\/19\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Estimated prevalence of Niemann\u2013Pick type C disease in Quebec<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34799641\" target=\"_blank\" rel=\"noopener\" aria-label=\"Estimated prevalence of Niemann\u2013Pick type C disease in Quebec\">Estimated prevalence of Niemann\u2013Pick type C disease in Quebec<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Theses and dissertations<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2021\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>\u00c9tude des facteurs g\u00e9n\u00e9tiques dans la pathophysiologie du somnambulisme<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/papyrus.bib.umontreal.ca\/xmlui\/handle\/1866\/25681\" target=\"_blank\" rel=\"noopener\" aria-label=\"\u00c9tude des facteurs g\u00e9n\u00e9tiques dans la pathophysiologie du somnambulisme\">\u00c9tude des facteurs g\u00e9n\u00e9tiques dans la pathophysiologie du somnambulisme<\/a>\n\t<\/div>\n<\/article>\n<article class=\"htb-post-list-item post-type-post\">\n\t<div class=\"contenu-box\">\n\t\t\t\t\t\t\t<div class=\"post-top-box\">\n\t\t\t\t<div class=\"eyebrow-box\">\n\t\t\t\t\t<span class=\"surtitre\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2021\/05\/14\t\t\t\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"title-box\">\n\t\t\t\t\t<h3>Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec<\/h3>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<div class=\"post-footer-box\">\n\t\t\t\t<span class=\"see-more-txt\">View publication<\/span>\n\t\t\t\t<span class=\"bt-arrow bt-arrow--externe\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/div>\n\t\t\t\t<a class=\"stretched-link\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33990640\" target=\"_blank\" rel=\"noopener\" aria-label=\"Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec\">Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec<\/a>\n\t<\/div>\n<\/article>\n\t\t\t<\/div>\n\t\t\t<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"featured_media":0,"template":"","projet-categorie":[],"projet-status":[49],"projet-thematique":[51],"projet-type-donnees":[61,62,58],"projet-localisation":[64],"class_list":["post-1581","projet","type-projet","status-publish","hentry","projet-status-ongoing","projet-thematique-genetics-and-genomics","projet-type-donnees-biochemical-and-hematological-data","projet-type-donnees-genetic-data","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Prevalence of variants in the NPC1 and NPC2 genes in the Quebec population | CARTaGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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