{"id":1852,"date":"2023-05-18T01:49:48","date_gmt":"2023-05-18T01:49:48","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1852"},"modified":"2026-02-23T00:12:32","modified_gmt":"2026-02-23T00:12:32","slug":"craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/","title":{"rendered":"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi)"},"content":{"rendered":"<p>RNA polymerase III-related or 4H (POLR3-HLD) is a genetic disorder that affects the white matter of the brain. It is caused by disease-causing variants in <em>POLR3A<\/em>, <em>POLR3B<\/em>, <em>POLR1C <\/em>or <em>POLR3K<\/em>. To this date, description of craniofacial features in individuals with POLR3-HLD is limited. Here, we explore and assess the craniofacial features of 31 patients with POLR3-HLD. We also propose correlations between craniofacial features and underlying disease-causing genes. This report will assist physicians in recognizing patients with POLR3-HLD, allowing for an early diagnosis. It will also contribute to our understanding of disease mechanisms, an important step in developing disease modifying therapies. \u00a0(<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/05\/16\/jmg-2023-109223\">https:\/\/jmg.bmj.com\/content\/early\/2023\/05\/16\/jmg-2023-109223<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/unnamed-12\/\" rel=\"attachment wp-att-1891\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1891\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-276x300.jpg\" alt=\"\" width=\"276\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-276x300.jpg 276w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-942x1024.jpg 942w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-768x835.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-640x696.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed.jpg 962w\" sizes=\"auto, (max-width: 276px) 100vw, 276px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>RNA polymerase III-related or 4H (POLR3-HLD) is a genetic disorder that affects the white matter of the brain. It is caused by disease-causing variants in POLR3A, POLR3B, POLR1C or POLR3K. To this date, description of craniofacial features in individuals with POLR3-HLD is limited. Here, we explore and assess the craniofacial features of 31 patients with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/\">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-1852","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>Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi) - 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\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"RNA polymerase III-related or 4H (POLR3-HLD) is a genetic disorder that affects the white matter of the brain. It is caused by disease-causing variants in POLR3A, POLR3B, POLR1C or POLR3K. To this date, description of craniofacial features in individuals with POLR3-HLD is limited. Here, we explore and assess the craniofacial features of 31 patients with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-05-18T01:49:48+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:12:32+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"962\" \/>\n\t<meta property=\"og:image:height\" content=\"1046\" \/>\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\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi)\",\"datePublished\":\"2023-05-18T01:49:48+00:00\",\"dateModified\":\"2026-02-23T00:12:32+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/\"},\"wordCount\":137,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/05\\\/unnamed-276x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/05\\\/18\\\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\\\/\",\"name\":\"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi) - 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Here, we explore and assess the craniofacial features of 31 patients with [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/","og_site_name":"JMG Contact blog","article_published_time":"2023-05-18T01:49:48+00:00","article_modified_time":"2026-02-23T00:12:32+00:00","og_image":[{"width":962,"height":1046,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed.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\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi)","datePublished":"2023-05-18T01:49:48+00:00","dateModified":"2026-02-23T00:12:32+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/"},"wordCount":137,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/05\/unnamed-276x300.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/","url":"https:\/\/blogs.bmj.com\/jmg\/2023\/05\/18\/craniofacial-features-of-polr3-related-leukodystrophy-caused-by-biallelic-variants-in-polr3a-polr3b-and-polr1c\/","name":"Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C (Contributed by Amytice Mirchi) - 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