{"id":978,"date":"2017-03-06T21:10:06","date_gmt":"2017-03-06T21:10:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=978"},"modified":"2026-02-24T21:09:55","modified_gmt":"2026-02-24T21:09:55","slug":"a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr. Patrick Frosk)"},"content":{"rendered":"<p>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. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/03\/06\/jmedgenet-2016-104296\">http:\/\/jmg.bmj.com\/content\/early\/2017\/03\/06\/jmedgenet-2016-104296<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-979\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6-300x164.jpg\" alt=\"\" width=\"300\" height=\"164\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6-300x164.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6-768x420.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6-1024x560.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/03\/Mar6.jpg 1153w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>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)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>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, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/03\/06\/a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-978","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis (Contributed by Dr. Patrick Frosk) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/03\/06\/a-truncating-mutation-in-cep55-is-the-likely-cause-of-march-a-novel-syndrome-affecting-neuronal-mitosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis (Contributed by Dr. Patrick Frosk) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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. 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