{"id":5496,"date":"2025-12-04T23:00:00","date_gmt":"2025-12-04T23:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=24b93cfab56474775e82e8eb786a53c5"},"modified":"2025-12-04T23:00:00","modified_gmt":"2025-12-04T23:00:00","slug":"palindrome-mediated-16p13-3-triplications-cause-a-recognizable-neurodegenerative-disorder-with-ataxia","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/12\/04\/palindrome-mediated-16p13-3-triplications-cause-a-recognizable-neurodegenerative-disorder-with-ataxia\/","title":{"rendered":"Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia"},"content":{"rendered":"Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microarray and short\/long-read genome sequencing uncovered overlapping inverted duplication-triplications on 16p13.3. RNA-seq showed upregulation of multiple genes within the variant, with ATP6V0C showing the most significant increase.","protected":false},"excerpt":{"rendered":"<p>Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microarray and short\/long-read genome sequencing uncovered&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-5496","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5496","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"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=5496"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5496\/revisions"}],"predecessor-version":[{"id":5497,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/5496\/revisions\/5497"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=5496"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=5496"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=5496"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}