{"id":14088,"date":"2026-03-25T17:00:00","date_gmt":"2026-03-25T17:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=1e9ddc33f1afdb5c766c9820944eac10"},"modified":"2026-03-25T23:00:00","modified_gmt":"2026-03-25T23:00:00","slug":"bloc1s1-variants-cause-lysosomal-and-autophagic-defects-resulting-in-a-hypomyelinating-leukodystrophy-with-epileptic-encephalopathy","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/25\/bloc1s1-variants-cause-lysosomal-and-autophagic-defects-resulting-in-a-hypomyelinating-leukodystrophy-with-epileptic-encephalopathy\/","title":{"rendered":"BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy"},"content":{"rendered":"We identify bi-allelic BLOC1S1 variants in 11 individuals with severe neurodevelopmental disease, including leukodystrophy, epilepsy, spasticity, and optic atrophy. Functional analyses demonstrate impaired lysosomal transport, defective autophagy, and pigmentation abnormalities. These variants primarily cause a neurological disorder, with prominent leukodystrophy, resembling the recently described individuals with pathogenic variants of BORCS8.","protected":false},"excerpt":{"rendered":"<p>We identify bi-allelic BLOC1S1 variants in 11 individuals with severe neurodevelopmental disease, including leukodystrophy, epilepsy, spasticity, and optic atrophy. Functional analyses demonstrate impaired lysosomal transport, defective autophagy, and &#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-14088","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\/14088","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=14088"}],"version-history":[{"count":22,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14088\/revisions"}],"predecessor-version":[{"id":14180,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14088\/revisions\/14180"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=14088"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=14088"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=14088"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}