{"id":1174,"date":"2018-09-07T19:09:45","date_gmt":"2018-09-07T19:09:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1174"},"modified":"2026-02-24T15:40:44","modified_gmt":"2026-02-24T15:40:44","slug":"long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/09\/07\/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy\/","title":{"rendered":"Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy (Contributed by Dr. Sheng Zeng)"},"content":{"rendered":"<p>Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal inherited disease mainly characterized by adult-onset cortical myoclonus and infrequent epilepsy. Over the past a few decades, we have used a number of genomic technologies to examine its genetic etiology but failed to identify likely pathogenic mutations. In the current study, we used long-read sequencing (LRS) on the PacBio Sequel platform and the Oxford Nanopore platform, and identified pentanucleotide repeat expansions within the <em>SAMD12 <\/em>gene as a major genetic etiological factor in FCMTE, corroborating a recently published study in Japan. Our study suggested that LRS is an effective tool for molecular diagnosis of genetic disorders caused by complex genomic variants that cannot be examined by conventional short-read exome and genome sequencing techniques. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/09\/07\/jmedgenet-2018-105484\">https:\/\/jmg.bmj.com\/content\/early\/2018\/09\/07\/jmedgenet-2018-105484<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1175\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team-300x171.jpg\" alt=\"\" width=\"300\" height=\"171\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team-300x171.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team-768x438.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team-1024x585.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/09\/photo-of-reaserch-team-640x365.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal inherited disease mainly characterized by adult-onset cortical myoclonus and infrequent epilepsy. Over the past a few decades, we have used a number of genomic technologies to examine its genetic etiology but failed to identify likely pathogenic mutations. In the current study, we used long-read sequencing [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/09\/07\/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy\/\">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-1174","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 intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy (Contributed by Dr. Sheng Zeng) - 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\/2018\/09\/07\/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy\/\" \/>\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 intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy (Contributed by Dr. Sheng Zeng) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal inherited disease mainly characterized by adult-onset cortical myoclonus and infrequent epilepsy. Over the past a few decades, we have used a number of genomic technologies to examine its genetic etiology but failed to identify likely pathogenic mutations. 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