{"id":808,"date":"2015-09-30T18:55:48","date_gmt":"2015-09-30T18:55:48","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=808"},"modified":"2026-02-25T00:37:33","modified_gmt":"2026-02-25T00:37:33","slug":"hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/09\/30\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\/","title":{"rendered":"HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Contributed by Dr. David Bonthron)"},"content":{"rendered":"<p>The <em>HACE1<\/em> gene encodes a ubiquitin ligase involved in regulating several small GTPases. It has previously been proposed to be a tumour suppressor, whose function is impaired in various forms of cancer. In this study, Hollstein <em>et al. <\/em>have identified biallelic null <em>HACE1<\/em> mutations in eight individuals from two families with an autosomal recessive syndrome of intellectual disability, ataxia and spasticity. Neither the affected subjects nor unaffected mutation carriers displayed any cancer predisposition, suggesting that the heterozygous mutations previously observed in association with Wilms tumour are likely to have been coincidental findings. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/30\/jmedgenet-2015-103344\">http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/30\/jmedgenet-2015-103344<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/HACE1_blog.png\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-809\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/HACE1_blog-300x215.png\" alt=\"HACE1_blog\" width=\"300\" height=\"215\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/HACE1_blog-300x215.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/HACE1_blog.png 780w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The HACE1 gene encodes a ubiquitin ligase involved in regulating several small GTPases. It has previously been proposed to be a tumour suppressor, whose function is impaired in various forms of cancer. In this study, Hollstein et al. have identified biallelic null HACE1 mutations in eight individuals from two families with an autosomal recessive syndrome [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/09\/30\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\/\">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-808","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>HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Contributed by Dr. David Bonthron) - 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\/2015\/09\/30\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Contributed by Dr. David Bonthron) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The HACE1 gene encodes a ubiquitin ligase involved in regulating several small GTPases. It has previously been proposed to be a tumour suppressor, whose function is impaired in various forms of cancer. In this study, Hollstein et al. have identified biallelic null HACE1 mutations in eight individuals from two families with an autosomal recessive syndrome [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/09\/30\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-09-30T18:55:48+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:37:33+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/HACE1_blog.png\" \/>\n\t<meta property=\"og:image:width\" content=\"780\" \/>\n\t<meta property=\"og:image:height\" content=\"560\" \/>\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\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Contributed by Dr. David Bonthron)\",\"datePublished\":\"2015-09-30T18:55:48+00:00\",\"dateModified\":\"2026-02-25T00:37:33+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/\"},\"wordCount\":113,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/09\\\/HACE1_blog-300x215.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/09\\\/30\\\/hace1-deficiency-causes-an-autosomal-recessive-neurodevelopmental-syndrome\\\/\",\"name\":\"HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome (Contributed by Dr. David Bonthron) - 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