{"id":1866,"date":"2023-07-17T16:16:05","date_gmt":"2023-07-17T16:16:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1866"},"modified":"2026-02-23T00:03:04","modified_gmt":"2026-02-23T00:03:04","slug":"exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/","title":{"rendered":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)"},"content":{"rendered":"

SUMOylation is a type of protein modification occurring in the cell. It includes the attachment of Small Ubiquitin-like Modifier (SUMO) to large sets of proteins to regulate their function. Abnormalities in protein SUMOylation are linked with various disease states, however, knowledge of the specific roles of the SUMOylation machinery in human disease is limited. In this study, we identify for the first time that the absence of SUMO protease 7 (SENP7) results in a rare syndrome associated with fatal arthrogryposis multiplex congenita, early respiratory failure, and neutropenia. This was established through genetic sequencing of infants from a large consanguineous family who passed away from an unknown disorder. (https:\/\/jmg.bmj.com\/content\/early\/2023\/07\/17\/jmg-2023-109267<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

SUMOylation is a type of protein modification occurring in the cell. It includes the attachment of Small Ubiquitin-like Modifier (SUMO) to large sets of proteins to regulate their function. Abnormalities in protein SUMOylation are linked with various disease states, however, knowledge of the specific roles of the SUMOylation machinery in human disease is limited. In […]<\/p>\n

Read More…<\/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-1866","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nExome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - 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\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"SUMOylation is a type of protein modification occurring in the cell. It includes the attachment of Small Ubiquitin-like Modifier (SUMO) to large sets of proteins to regulate their function. Abnormalities in protein SUMOylation are linked with various disease states, however, knowledge of the specific roles of the SUMOylation machinery in human disease is limited. In [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-07-17T16:16:05+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:03:04+00:00\" \/>\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\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)\",\"datePublished\":\"2023-07-17T16:16:05+00:00\",\"dateModified\":\"2026-02-23T00:03:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/\",\"name\":\"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2023-07-17T16:16:05+00:00\",\"dateModified\":\"2026-02-23T00:03:04+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/07\\\/17\\\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/","og_locale":"en_US","og_type":"article","og_title":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - JMG Contact blog","og_description":"SUMOylation is a type of protein modification occurring in the cell. It includes the attachment of Small Ubiquitin-like Modifier (SUMO) to large sets of proteins to regulate their function. Abnormalities in protein SUMOylation are linked with various disease states, however, knowledge of the specific roles of the SUMOylation machinery in human disease is limited. In [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/","og_site_name":"JMG Contact blog","article_published_time":"2023-07-17T16:16:05+00:00","article_modified_time":"2026-02-23T00:03:04+00:00","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\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)","datePublished":"2023-07-17T16:16:05+00:00","dateModified":"2026-02-23T00:03:04+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/"},"wordCount":136,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/","url":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/","name":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2023-07-17T16:16:05+00:00","dateModified":"2026-02-23T00:03:04+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/07\/17\/exome-sequencing-links-the-sumo-protease-senp7-with-fatal-arthrogryposis-multiplex-congenita-early-respiratory-failure-and-neutropenia\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia (Contributed by Dr. Karin Weiss)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1866","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1866"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1866\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1866"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1866"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1866"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}