{"id":1314,"date":"2019-08-20T16:25:19","date_gmt":"2019-08-20T16:25:19","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1314"},"modified":"2026-02-24T00:33:57","modified_gmt":"2026-02-24T00:33:57","slug":"long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\/","title":{"rendered":"Long-read sequencing identified repeat expansions in the 5\u2032UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng)"},"content":{"rendered":"<p>Neuronal intranuclear inclusion disease (NIID) is a myth and has perplexed the neurologists for half a century, due to its high clinical heterogeneity with unknown genetic causes. This progressive neurodegenerative disease is characterized by the formation of eosinophilic hyaline intranuclear inclusions in neuronal system and multiple organs. In this article, the authors performed whole-genome sequencing (WGS) and long-read sequencing (LRS) on NIID patients identified with intranuclear inclusions by skin biopsy. The GGC repeated expansion in 5\u2019UTR of the\u00a0<em>NOTCH2NLC<\/em>\u00a0gene were consistently found in both familial and sporadic cases, which were confirmed by repeat-primed PCR in fourteen adult-onset and one juvenile-onset patients. Together, the authors demonstrated GGC repeated expansion in 5\u2019UTR of the\u00a0<em>NOTCH2NLC<\/em> gene was associated with the pathogenesis of NIID. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/08\/14\/jmedgenet-2019-106268\">https:\/\/jmg.bmj.com\/content\/early\/2019\/08\/14\/jmedgenet-2019-106268<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\/figure-2\/\" rel=\"attachment wp-att-1315\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1315\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2-300x176.jpg\" alt=\"\" width=\"300\" height=\"176\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2-300x176.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2-768x451.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2-1024x601.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2-640x376.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Neuronal intranuclear inclusion disease (NIID) is a myth and has perplexed the neurologists for half a century, due to its high clinical heterogeneity with unknown genetic causes. This progressive neurodegenerative disease is characterized by the formation of eosinophilic hyaline intranuclear inclusions in neuronal system and multiple organs. In this article, the authors performed whole-genome sequencing [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\/\">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-1314","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>Long-read sequencing identified repeat expansions in the 5\u2032UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng) - 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\/2019\/08\/20\/long-read-sequencing-identified-repeat-expansions-in-the-5\u2032utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Long-read sequencing identified repeat expansions in the 5\u2032UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Neuronal intranuclear inclusion disease (NIID) is a myth and has perplexed the neurologists for half a century, due to its high clinical heterogeneity with unknown genetic causes. This progressive neurodegenerative disease is characterized by the formation of eosinophilic hyaline intranuclear inclusions in neuronal system and multiple organs. In this article, the authors performed whole-genome sequencing [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/08\/20\/long-read-sequencing-identified-repeat-expansions-in-the-5\u2032utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-08-20T16:25:19+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:33:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/08\/Figure-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3600\" \/>\n\t<meta property=\"og:image:height\" content=\"2114\" \/>\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\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Long-read sequencing identified repeat expansions in the 5\u2032UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng)\",\"datePublished\":\"2019-08-20T16:25:19+00:00\",\"dateModified\":\"2026-02-24T00:33:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/\"},\"wordCount\":158,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/08\\\/Figure-2-300x176.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/08\\\/20\\\/long-read-sequencing-identified-repeat-expansions-in-the-5%e2%80%b2utr-of-the-notch2nlc-gene-from-chinese-patients-with-neuronal-intranuclear-inclusion-disease\\\/\",\"name\":\"Long-read sequencing identified repeat expansions in the 5\u2032UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease (Contributed by Dr. Jianwen Deng) - 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This progressive neurodegenerative disease is characterized by the formation of eosinophilic hyaline intranuclear inclusions in neuronal system and multiple organs. 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