{"id":1913,"date":"2023-11-30T13:34:01","date_gmt":"2023-11-30T13:34:01","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1913"},"modified":"2026-02-22T23:49:12","modified_gmt":"2026-02-22T23:49:12","slug":"clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/30\/clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review\/","title":{"rendered":"Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review (Contributed by Dr. Chujun Wu)"},"content":{"rendered":"<p><em>RNF216<\/em>-related disorder is a rare neuroendocrine disease resulting from <em>RNF216<\/em> gene mutations with diverse symptoms and inheritance pattern. This study reported a new case with a novel causative <em>RNF216<\/em> variant and reviewed all individuals with causative <em>RNF216<\/em> variants in previous reports. We found that ataxia was the most frequent initial symptoms in individuals under 30 years old, while chorea was the most frequent initial symptom in individuals over 30 years old. Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. Furthermore, the majority of <em>RNF216<\/em> variants affect the RBR domain or C-terminal extension. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/27\/jmg-2023-109397\">https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/27\/jmg-2023-109397<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/30\/clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review\/figure-1-7\/\" rel=\"attachment wp-att-1914\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1914\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-237x300.jpg\" alt=\"\" width=\"237\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-237x300.jpg 237w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-809x1024.jpg 809w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-768x972.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-1213x1536.jpg 1213w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-1618x2048.jpg 1618w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1-640x810.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/11\/Figure-1.jpg 2008w\" sizes=\"auto, (max-width: 237px) 100vw, 237px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>RNF216-related disorder is a rare neuroendocrine disease resulting from RNF216 gene mutations with diverse symptoms and inheritance pattern. This study reported a new case with a novel causative RNF216 variant and reviewed all individuals with causative RNF216 variants in previous reports. We found that ataxia was the most frequent initial symptoms in individuals under 30 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/30\/clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review\/\">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-1913","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review (Contributed by Dr. Chujun Wu) - 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\/11\/30\/clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical and genetic spectrum of RNF216-related disorder: A new case and literature review (Contributed by Dr. Chujun Wu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"RNF216-related disorder is a rare neuroendocrine disease resulting from RNF216 gene mutations with diverse symptoms and inheritance pattern. This study reported a new case with a novel causative RNF216 variant and reviewed all individuals with causative RNF216 variants in previous reports. 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