{"id":2029,"date":"2025-01-14T17:09:36","date_gmt":"2025-01-14T17:09:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2029"},"modified":"2026-02-22T01:23:57","modified_gmt":"2026-02-22T01:23:57","slug":"robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/","title":{"rendered":"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho)"},"content":{"rendered":"<p>Primary ciliary dyskinesia (PCD) is a rare inherited condition that makes it hard for the body to clear germs from the lungs and nose, causing frequent infections. It is often confused with other illnesses, so genetic testing is important for a correct diagnosis. One tricky gene involved is <em>HYDIN<\/em>, as it has a nearly identical copy called <em>HYDIN2<\/em>. By showing that <em>HYDIN2<\/em> is not active in airway cells, we used RNA from nasal tissue samples to pinpoint genetic changes in <em>HYDIN<\/em>. Our approach improves PCD diagnosis and could help identify other genetic diseases with similar challenges. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/01\/12\/jmg-2024-110400\">https:\/\/jmg.bmj.com\/content\/early\/2025\/01\/12\/jmg-2024-110400<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/untitled-78\/\" rel=\"attachment wp-att-2030\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-2030\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-300x185.jpg\" alt=\"\" width=\"300\" height=\"185\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-300x185.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-1024x631.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-768x473.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-640x395.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled.jpg 1103w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Primary ciliary dyskinesia (PCD) is a rare inherited condition that makes it hard for the body to clear germs from the lungs and nose, causing frequent infections. It is often confused with other illnesses, so genetic testing is important for a correct diagnosis. One tricky gene involved is HYDIN, as it has a nearly identical [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/\">Read More&#8230;<\/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-2029","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho) - 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\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Primary ciliary dyskinesia (PCD) is a rare inherited condition that makes it hard for the body to clear germs from the lungs and nose, causing frequent infections. It is often confused with other illnesses, so genetic testing is important for a correct diagnosis. One tricky gene involved is HYDIN, as it has a nearly identical [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-01-14T17:09:36+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:23:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1103\" \/>\n\t<meta property=\"og:image:height\" content=\"680\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho)\",\"datePublished\":\"2025-01-14T17:09:36+00:00\",\"dateModified\":\"2026-02-22T01:23:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/\"},\"wordCount\":135,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2025\\\/01\\\/Untitled-300x185.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\\\/\",\"name\":\"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho) - 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One tricky gene involved is HYDIN, as it has a nearly identical [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/","og_site_name":"JMG Contact blog","article_published_time":"2025-01-14T17:09:36+00:00","article_modified_time":"2026-02-22T01:23:57+00:00","og_image":[{"width":1103,"height":680,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled.jpg","type":"image\/jpeg"}],"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\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho)","datePublished":"2025-01-14T17:09:36+00:00","dateModified":"2026-02-22T01:23:57+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/"},"wordCount":135,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2025\/01\/Untitled-300x185.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/","url":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/robust-detection-of-pathogenic-hydin-variants-that-cause-primary-ciliary-dyskinesia-using-rna-seq-of-nasal-mucosa\/","name":"Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa (Contributed by Minako Hijikata, Kozo Morimoto, Masashi Ito, Keiko Wakabayashi, Akiko Miyabayashi, and Naoto Keicho) - 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