{"id":1665,"date":"2026-07-27T14:37:44","date_gmt":"2026-07-27T18:37:44","guid":{"rendered":"https:\/\/cartagene.qc.ca\/projet\/hydin-in-plain-sight-undiscovered-primary-ciliary-dyskinesia-in-quebec-via-the-hydin-gene\/"},"modified":"2026-07-31T14:56:03","modified_gmt":"2026-07-31T18:56:03","slug":"hydin-in-plain-sight-undiscovered-primary-ciliary-dyskinesia-in-quebec-via-the-hydin-gene","status":"publish","type":"projet","link":"https:\/\/cartagene.qc.ca\/en\/projet\/hydin-in-plain-sight-undiscovered-primary-ciliary-dyskinesia-in-quebec-via-the-hydin-gene\/","title":{"rendered":"HYDIN in plain sight &#8211; Undiscovered Primary Ciliary Dyskinesia in Quebec via the HYDIN gene"},"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\">HYDIN in plain sight &#8211; Undiscovered Primary Ciliary Dyskinesia in Quebec via the HYDIN gene<\/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 >HYDIN in plain sight &#8211; Undiscovered Primary Ciliary Dyskinesia in Quebec via the HYDIN gene<\/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\">Completed<\/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\">2022<\/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\">Shapiro, Adam<\/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\">The Research Institute of the McGill University Health Centre and McGill University<\/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>This study focuses on a lesser\u2011known form of primary ciliary dyskinesia (PCD), a rare disease affecting the sinuses, ears, and lungs. A gene called HYDIN, once believed to be an extremely rare cause of PCD, appears to be particularly relevant in Quebec. Several patients followed at the specialized PCD clinic of the McGill University Health Centre (MUHC) carry the same HYDIN variant, suggesting a founder effect within the Quebec population.<br \/>\nBecause HYDIN\u2011related PCD does not show the typical abnormalities visible under electron microscopy, many cases remain undiagnosed. However, affected individuals consistently present abnormally low nasal nitric oxide levels, a key biomarker for PCD.<br \/>\nThe project uses genetic and genealogical data from CARTaGENE and BALSAC to reconstruct a shared haplotype among HYDIN variant carriers and identify potential carriers in the Quebec population. Genealogy analyses for this HYDIN founder variant, as well as for another founder variant in the TTC25 gene, have now been completed. Two articles based on these results are currently in preparation.<br \/>\nThese findings will help estimate the true frequency of the HYDIN variant in Quebec and improve diagnostic strategies, prioritizing effective and less invasive testing approaches for individuals at risk of HYDIN\u2011associated PCD.<\/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>Chronic diseases<\/li>\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>Biological samples<\/li>\n<li>Genetic data<\/li>\n<li>Physical and cognitive measures<\/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\">Publications<\/span>\n\t\t\t\t\t<span class=\"year-txt\">\n\t\t\t\t\t\t2025\/09\/18\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>ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant 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\/41002425\" target=\"_blank\" rel=\"noopener\" aria-label=\"ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec\">ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant 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":[50],"projet-thematique":[53,51],"projet-type-donnees":[63,62,60,58],"projet-localisation":[64],"class_list":["post-1665","projet","type-projet","status-publish","hentry","projet-status-completed","projet-thematique-chronic-diseases","projet-thematique-genetics-and-genomics","projet-type-donnees-biological-samples","projet-type-donnees-genetic-data","projet-type-donnees-physical-and-cognitive-measures","projet-type-donnees-questionnaire-data","projet-localisation-quebec-en"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - 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