{"id":978,"date":"2017-03-06T21:10:06","date_gmt":"2017-03-06T21:10:06","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=978"},"modified":"2017-03-06T21:10:06","modified_gmt":"2017-03-06T21:10:06","slug":"a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/03\/06\/a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis\/","title":{"rendered":"A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis"},"content":{"rendered":"

Hydranencephaly, a congenital anomaly caused by destruction of the cerebral hemispheres is usually found in isolation. We report a family in which three fetuses displayed multinucleated neurons, anhydramnios, renal dysplasia, and cerebellar hypoplasia together with hydranencephaly, a novel syndrome we have named MARCH. Sequencing revealed the cause to be a homozygous truncating mutation in CEP55, a cell cycle regulator. Knock-down of the CEP55 ortholog in zebrafish reproduced the brain and kidney defects, and were rescued by full-length, but not truncated human CEP55. When we expressed truncated CEP55 in human cells, the protein failed to localize properly, producing multinucleated daughter cells. Our results implicate a faulty centrosomal protein as the cause of this lethal multiple anomaly syndrome. (By Dr. Patrick Frosk, http:\/\/jmg.bmj.com\/content\/early\/2017\/03\/06\/jmedgenet-2016-104296<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

Zebrafish were used to model MARCH syndrome, a novel multi system disorder in humans caused by mutations in CEP55. Image credits to Carter Gunn, Julien Philippe (microscopy), and Abiga\u00eblle Philippe (center image)<\/p>\n","protected":false},"excerpt":{"rendered":"

Hydranencephaly, a congenital anomaly caused by destruction of the cerebral hemispheres is usually found in isolation. We report a family in which three fetuses displayed multinucleated neurons, anhydramnios, renal dysplasia, and cerebellar hypoplasia together with hydranencephaly, a novel syndrome we have named MARCH. Sequencing revealed the cause to be a homozygous truncating mutation in CEP55, […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-978","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/978","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=978"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/978\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=978"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=978"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=978"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}