{"id":1674,"date":"2021-11-11T15:16:06","date_gmt":"2021-11-11T15:16:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1674"},"modified":"2026-02-23T21:08:28","modified_gmt":"2026-02-23T21:08:28","slug":"new-locus-underlying-auriculocondylar-syndrome-arcnd-430-kb-duplication-involving-twist1-regulatory-elements","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/11\/new-locus-underlying-auriculocondylar-syndrome-arcnd-430-kb-duplication-involving-twist1-regulatory-elements\/","title":{"rendered":"New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (Contributed by Dr. Maria Rita Passos Bueno)"},"content":{"rendered":"

We report a novel genetic mechanism underlying\u00a0Auriculocondylar syndrome (ARCND), a rare disease that mainly affects jaw and outer ear development. In a Brazilian family we identified a large duplication of DNA within the HDAC9<\/em> gene that contains elements involved in regulation of the neighbouring gene, TWIST1<\/em>. We found higher levels of HDAC9 and TWIST1 in ARCND patient neural crest cells, which are the cells that give rise to the craniofacial structures compromised in this disorder. In addition, altered cell migration and ossification were also observed. Our findings show that this duplication is pathogenic and that deregulation of TWIST1<\/em> gene expression contributes to the disease. (https:\/\/jmg.bmj.com\/content\/early\/2021\/11\/07\/jmedgenet-2021-107825<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

We report a novel genetic mechanism underlying\u00a0Auriculocondylar syndrome (ARCND), a rare disease that mainly affects jaw and outer ear development. In a Brazilian family we identified a large duplication of DNA within the HDAC9 gene that contains elements involved in regulation of the neighbouring gene, TWIST1. We found higher levels of HDAC9 and TWIST1 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-1674","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNew locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (Contributed by Dr. Maria Rita Passos Bueno) - 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\/2021\/11\/11\/new-locus-underlying-auriculocondylar-syndrome-arcnd-430-kb-duplication-involving-twist1-regulatory-elements\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (Contributed by Dr. Maria Rita Passos Bueno) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We report a novel genetic mechanism underlying\u00a0Auriculocondylar syndrome (ARCND), a rare disease that mainly affects jaw and outer ear development. 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