{"id":14802,"date":"2026-03-17T15:00:00","date_gmt":"2026-03-17T15:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=4f6884d06001e5dd26113bb6cd5debd6"},"modified":"2026-03-17T23:00:00","modified_gmt":"2026-03-17T23:00:00","slug":"de-novo-mutations-and-environmental-modifiers-lessons-from-neural-tube-defects","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/17\/de-novo-mutations-and-environmental-modifiers-lessons-from-neural-tube-defects\/","title":{"rendered":"De novo mutations and environmental modifiers: lessons from neural tube defects"},"content":{"rendered":"Spina bifida is a clinically and etiologically heterogeneous group of neural tube defects (NTDs) that includes meningomyelocele. While folic acid (FA) supplementation has reduced the incidence by 30\u201350%, genetic contributors remain only partially understood. New trio sequencing technology has identified de novo mutations (DNMs) in 20\u201325% of patients. Two recent large-scale genomic studies identified DNMs in 187 candidate genes and a recurrent 22q11.2 deletion as risk factors. Partial penetrance and variable expressivity are frequent, suggesting that risk is dependent upon FA and other modifiers. The Spina Bifida Sequencing Consortium supports large-scale data sharing for multidisciplinary approaches, emphasizing high-confidence NTD genes and moving the results toward clinical testing.","protected":false},"excerpt":{"rendered":"<p>Spina bifida is a clinically and etiologically heterogeneous group of neural tube defects (NTDs) that includes meningomyelocele. While folic acid (FA) supplementation has reduced the incidence by 30\u201350%, genetic contributors remain only partially under&#8230;<\/p>\n","protected":false},"author":535,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,65],"tags":[79],"class_list":["post-14802","post","type-post","status-publish","format-standard","hentry","category-articulos","category-trends-in-genetics","tag-trendsgen"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14802","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\/535"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=14802"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14802\/revisions"}],"predecessor-version":[{"id":15329,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14802\/revisions\/15329"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=14802"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=14802"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=14802"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}