{"id":1336,"date":"2019-09-14T13:17:11","date_gmt":"2019-09-14T13:17:11","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1336"},"modified":"2026-02-24T00:28:11","modified_gmt":"2026-02-24T00:28:11","slug":"distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/","title":{"rendered":"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou)"},"content":{"rendered":"<p>Distal hereditary motor neuronopathy of the Jerash type (HMNJ) is characterized by distal muscle weakness and atrophy. <em>SIGMAR1 <\/em>mutations have recently been associated with other motor neuron diseases. We have identified a novel <em>SIGMAR1 <\/em>c.500A&gt;T missense mutation that is associated with HMNJ in 30 patients. We proved that this mutation reduces the expression and alters the subcellular localization of the SIGMAR1 protein, while cells expressing this mutant exhibit increased cell death. Our data strongly supports that the <em>SIGMAR1 <\/em>c.500A&gt;T mutation is responsible for the development of HMNJ, and we propose that <em>SIGMAR1 <\/em>be included in diagnostic panels for motor neuropathies. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/10\/jmedgenet-2019-106108\">https:\/\/jmg.bmj.com\/content\/early\/2019\/09\/10\/jmedgenet-2019-106108<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/lay-image\/\" rel=\"attachment wp-att-1337\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1337\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image-300x206.png\" alt=\"\" width=\"300\" height=\"206\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image-300x206.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image-768x528.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image-640x440.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image.png 847w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>HMNJ\u00a0<i>SIGMAR1<\/i>\u00a0mutation disturbs the localisation and expression of wild-type SIGMAR1<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Distal hereditary motor neuronopathy of the Jerash type (HMNJ) is characterized by distal muscle weakness and atrophy. SIGMAR1 mutations have recently been associated with other motor neuron diseases. We have identified a novel SIGMAR1 c.500A&gt;T missense mutation that is associated with HMNJ in 30 patients. We proved that this mutation reduces the expression and alters [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/\">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-1336","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>Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou) - 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\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Distal hereditary motor neuronopathy of the Jerash type (HMNJ) is characterized by distal muscle weakness and atrophy. SIGMAR1 mutations have recently been associated with other motor neuron diseases. We have identified a novel SIGMAR1 c.500A&gt;T missense mutation that is associated with HMNJ in 30 patients. We proved that this mutation reduces the expression and alters [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-09-14T13:17:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:28:11+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image.png\" \/>\n\t<meta property=\"og:image:width\" content=\"847\" \/>\n\t<meta property=\"og:image:height\" content=\"582\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou)\",\"datePublished\":\"2019-09-14T13:17:11+00:00\",\"dateModified\":\"2026-02-24T00:28:11+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/\"},\"wordCount\":149,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/09\\\/lay-image-300x206.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/09\\\/14\\\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\\\/\",\"name\":\"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou) - 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SIGMAR1 mutations have recently been associated with other motor neuron diseases. We have identified a novel SIGMAR1 c.500A&gt;T missense mutation that is associated with HMNJ in 30 patients. We proved that this mutation reduces the expression and alters [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/","og_site_name":"JMG Contact blog","article_published_time":"2019-09-14T13:17:11+00:00","article_modified_time":"2026-02-24T00:28:11+00:00","og_image":[{"width":847,"height":582,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image.png","type":"image\/png"}],"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\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou)","datePublished":"2019-09-14T13:17:11+00:00","dateModified":"2026-02-24T00:28:11+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/"},"wordCount":149,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/09\/lay-image-300x206.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/","url":"https:\/\/blogs.bmj.com\/jmg\/2019\/09\/14\/distal-hereditary-motor-neuronopathy-of-the-jerash-type-is-caused-by-a-novel-sigmar1-c-500at-missense-mutation\/","name":"Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A&gt;T missense mutation (Contributed by Prof. Kyproula Christodoulou) - 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