{"id":691,"date":"2014-10-29T00:28:45","date_gmt":"2014-10-29T00:28:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=691"},"modified":"2026-02-25T19:38:34","modified_gmt":"2026-02-25T19:38:34","slug":"recent-advances-in-primary-ciliary-dyskinesia-genetics","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/","title":{"rendered":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak)"},"content":{"rendered":"

This review presents the latest data on the relations between the genetic basis of primary ciliary dyskinesia (PCD) and improvement of its diagnosis. PCD is a rare disorder caused by mutations in one of many ciliary genes. The PCD diagnosis is challenging and requires a well described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and beating pattern, as well as of the underlying genetic cause. New technologies available in the genetic studies have a great influence on the number of identified PCD-causative genes and mutations and this number is bound to rise. The current knowledge can already be used to create new genetic tests for PCD which can accelerate the correct diagnosis. (http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/28\/jmedgenet-2014-102755<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

This review presents the latest data on the relations between the genetic basis of primary ciliary dyskinesia (PCD) and improvement of its diagnosis. PCD is a rare disorder caused by mutations in one of many ciliary genes. The PCD diagnosis is challenging and requires a well described clinical phenotype combined with the identification of abnormalities […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-691","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nRecent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This review presents the latest data on the relations between the genetic basis of primary ciliary dyskinesia (PCD) and improvement of its diagnosis. PCD is a rare disorder caused by mutations in one of many ciliary genes. The PCD diagnosis is challenging and requires a well described clinical phenotype combined with the identification of abnormalities [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-10-29T00:28:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:38:34+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak)\",\"datePublished\":\"2014-10-29T00:28:45+00:00\",\"dateModified\":\"2026-02-25T19:38:34+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/\",\"name\":\"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2014-10-29T00:28:45+00:00\",\"dateModified\":\"2026-02-25T19:38:34+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/10\\\/29\\\/recent-advances-in-primary-ciliary-dyskinesia-genetics\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/","og_locale":"en_US","og_type":"article","og_title":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog","og_description":"This review presents the latest data on the relations between the genetic basis of primary ciliary dyskinesia (PCD) and improvement of its diagnosis. PCD is a rare disorder caused by mutations in one of many ciliary genes. The PCD diagnosis is challenging and requires a well described clinical phenotype combined with the identification of abnormalities [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/","og_site_name":"JMG Contact blog","article_published_time":"2014-10-29T00:28:45+00:00","article_modified_time":"2026-02-25T19:38:34+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak)","datePublished":"2014-10-29T00:28:45+00:00","dateModified":"2026-02-25T19:38:34+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/"},"wordCount":137,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/","url":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/","name":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2014-10-29T00:28:45+00:00","dateModified":"2026-02-25T19:38:34+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/29\/recent-advances-in-primary-ciliary-dyskinesia-genetics\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Recent advances in primary ciliary dyskinesia genetics (Contributed by Dr. Ma\u0142gorzata Kurkowiak)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/691","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=691"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/691\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=691"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=691"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=691"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}