{"id":1029,"date":"2017-09-15T18:18:26","date_gmt":"2017-09-15T18:18:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1029"},"modified":"2026-02-24T16:08:05","modified_gmt":"2026-02-24T16:08:05","slug":"serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/09\/15\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\/","title":{"rendered":"SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin R\u00f6ben)"},"content":{"rendered":"<p>\u201cMethylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like\u201d syndrome (MEGDEL syndrome) is a genetic disease caused by mutations in a gene named SERAC1, which is involved in the metabolism of specific lipids, so-called phosphatidylglycerols. MEGDEL syndrome typically presents with progressive deafness, motor symptoms (i. e. dystonia) and additional features (e. g. neonatal sepsis and liver failure) with onset in early childhood. In our study, we now show that this classic infantile phenotype represents only ONE far-end of what is actually a broad continuum of SERAC1 disease. This spectrum includes, on the other end, also much later, oligosymptomatic presentations of teenage-onset complex hereditary spastic paraplegia (cHSP). Our findings thus unfold a SERAC1 disease spectrum of variable disease severity and add SERAC1 to the increasing list of cHSP genes due to disturbances in lipid metabolism pathways. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/09\/15\/jmedgenet-2017-104622\">http:\/\/jmg.bmj.com\/content\/early\/2017\/09\/15\/jmedgenet-2017-104622<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1030\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled-300x205.jpg\" alt=\"\" width=\"300\" height=\"205\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled-300x205.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled-768x524.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled-1024x698.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled.jpg 1044w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>the now unfolding clinical disease spectrum of SERAC1 mutations<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u201cMethylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like\u201d syndrome (MEGDEL syndrome) is a genetic disease caused by mutations in a gene named SERAC1, which is involved in the metabolism of specific lipids, so-called phosphatidylglycerols. MEGDEL syndrome typically presents with progressive deafness, motor symptoms (i. e. dystonia) and additional features (e. g. neonatal sepsis and liver failure) with onset [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/09\/15\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\/\">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-1029","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>SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin R\u00f6ben) - 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\/2017\/09\/15\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin R\u00f6ben) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"\u201cMethylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like\u201d syndrome (MEGDEL syndrome) is a genetic disease caused by mutations in a gene named SERAC1, which is involved in the metabolism of specific lipids, so-called phosphatidylglycerols. MEGDEL syndrome typically presents with progressive deafness, motor symptoms (i. e. dystonia) and additional features (e. g. neonatal sepsis and liver failure) with onset [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/09\/15\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-09-15T18:18:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T16:08:05+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/09\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1044\" \/>\n\t<meta property=\"og:image:height\" content=\"712\" \/>\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\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin R\u00f6ben)\",\"datePublished\":\"2017-09-15T18:18:26+00:00\",\"dateModified\":\"2026-02-24T16:08:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/\"},\"wordCount\":169,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/09\\\/Untitled-300x205.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/09\\\/15\\\/serac1-deficiency-causes-complicated-hsp-evidence-from-a-novel-splice-mutation-in-a-large-family\\\/\",\"name\":\"SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (Contributed by Dr. Benjamin R\u00f6ben) - 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