{"id":11379,"date":"2026-02-12T17:00:00","date_gmt":"2026-02-12T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=269a3b4c8b2ef3df98907010074090dc"},"modified":"2026-02-12T23:00:00","modified_gmt":"2026-02-12T23:00:00","slug":"smn1-variants-identified-by-false-positive-sma-newborn-screening-tests-therapeutic-hurdles-and-functional-and-epidemiological-solutions","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/02\/12\/smn1-variants-identified-by-false-positive-sma-newborn-screening-tests-therapeutic-hurdles-and-functional-and-epidemiological-solutions\/","title":{"rendered":"SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions"},"content":{"rendered":"Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to false-positive SMA newborn screening results. Integrating genomic, functional, and population data clarified diagnosis, preventing unnecessary treatment, and demonstrated that a previously undescribed SMN protein can preserve motor function despite the absence of wild-type full-length SMN.","protected":false},"excerpt":{"rendered":"<p>Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to false-positive SMA newborn screening results. Integrating genomic, functional, and population data clarified diagnosis, preventing unnecessary treatment, and demonstrate&#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-11379","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\/11379","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=11379"}],"version-history":[{"count":24,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11379\/revisions"}],"predecessor-version":[{"id":11470,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/11379\/revisions\/11470"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=11379"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=11379"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=11379"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}