{"id":8554,"date":"2026-01-26T16:00:00","date_gmt":"2026-01-26T16:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=d7af0b4b65f836a7b0823d24be69bd2f"},"modified":"2026-01-26T23:00:00","modified_gmt":"2026-01-26T23:00:00","slug":"dominant-and-recessive-atoh1-variants-cause-distinct-neurodevelopmental-disorders-with-hearing-loss","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/26\/dominant-and-recessive-atoh1-variants-cause-distinct-neurodevelopmental-disorders-with-hearing-loss\/","title":{"rendered":"Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss"},"content":{"rendered":"This study reveals that dominant and recessive variants in ATOH1, a key transcription factor for hindbrain and mechanosensory development, cause distinct syndromes. Dominant C-terminal truncating variants induce a recognizable hindbrain malformation, mild motor symptoms, and hearing loss, while recessive loss-of-function variants cause a severe neurodevelopmental disorder with profound hearing loss.","protected":false},"excerpt":{"rendered":"<p>This study reveals that dominant and recessive variants in ATOH1, a key transcription factor for hindbrain and mechanosensory development, cause distinct syndromes. Dominant C-terminal truncating variants induce a recognizable hindbrain malformation, m&#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-8554","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\/8554","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=8554"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/8554\/revisions"}],"predecessor-version":[{"id":8905,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/8554\/revisions\/8905"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=8554"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=8554"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=8554"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}