{"id":62,"date":"2023-11-27T17:00:11","date_gmt":"2023-11-27T17:00:11","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=b2af99e33143828b20375e355f57412d"},"modified":"2023-11-27T17:00:11","modified_gmt":"2023-11-27T17:00:11","slug":"clinical-and-genetic-spectrum-of-rnf216-related-disorder-a-new-case-and-literature-review","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/11\/27\/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"},"content":{"rendered":"<sec><st>Background<\/st><p>Cases of <I>RNF216<\/I>-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied.<\/p><\/sec><sec><st>Methods<\/st><p>We identified an individual with a novel causative <I>RNF216<\/I> variant in our institution and reviewed all individuals with causative <I>RNF216<\/I> variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised.<\/p><\/sec><sec><st>Results<\/st><p>Twenty-four individuals from 17 families with causative <I>RNF216<\/I> variants were identified. The mean age at the onset of neurological symptoms was 29.2 years (range 18&ndash;49 years). Ataxia (57%) was the most frequent initial symptoms in individuals under 30 years old, while chorea (63%) 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. White matter lesions (96%) and cerebellar atrophy (92%) were the most common imaging findings. Twenty pathogenic variants in <I>RNF216<\/I> were detected. The variants in 12 (71%) families were inherited in a monogenic recessive pattern, whereas the variants in 5 (29%) were inherited in a digenic pattern by acting with variants in other genes. The majority of the <I>RNF216<\/I> variants (85%) resulted in amino acid changes or the truncation of the &lsquo;RING between RING&rsquo; (RBR) domain or C-terminal extension.<\/p><\/sec><sec><st>Conclusion<\/st><p><I>RNF216<\/I>-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with <I>RNF216<\/I>-related disorder influence the RBR domain or C-terminal extension of RNF216.<\/p><\/sec>","protected":false},"excerpt":{"rendered":"<p>BackgroundCases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied.MethodsWe identified an individual with a novel causative RNF216 variant in our instituti&#8230;<\/p>\n","protected":false},"author":6,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8],"tags":[],"class_list":["post-62","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/62","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=62"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/62\/revisions"}],"predecessor-version":[{"id":63,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/62\/revisions\/63"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=62"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=62"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=62"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}