{"id":1510,"date":"2020-08-01T13:53:59","date_gmt":"2020-08-01T13:53:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1510"},"modified":"2026-02-23T23:51:33","modified_gmt":"2026-02-23T23:51:33","slug":"biallelic-loss-of-function-zfyve19-mutations-are-associated-with-congenital-hepatic-fibrosis-sclerosing-cholangiopathy-and-high-ggt-cholestasis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/biallelic-loss-of-function-zfyve19-mutations-are-associated-with-congenital-hepatic-fibrosis-sclerosing-cholangiopathy-and-high-ggt-cholestasis\/","title":{"rendered":"Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis (Contributed by Dr. Wei-Sha Luan)"},"content":{"rendered":"<p>Mutations in\u00a0<em>ZFYVE19<\/em>, which encodes a protein involved in division of cells and in regulation of the primary cilium (an incompletely understood structure in many but not all cells), that abolish ZFYVE19 protein expression underlie a form of bile-duct and liver disease for which children may require liver transplantation.\u00a0 This was not known before.\u00a0 Manifestations of\u00a0<em>ZFYVE19\u00a0<\/em>disease outside the hepatobiliary system, or in adults, perhaps with partial expression or partial function of the protein, now can be studied, and affected families can be helped to understand what to expect for their children with severe bile-duct and liver\u00a0<em>ZFYVE19\u00a0<\/em>disease. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/31\/jmedgenet-2019-106706\">https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/31\/jmedgenet-2019-106706<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/biallelic-loss-of-function-zfyve19-mutations-are-associated-with-congenital-hepatic-fibrosis-sclerosing-cholangiopathy-and-high-ggt-cholestasis\/wang-group\/\" rel=\"attachment wp-att-1540\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1540\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group-300x184.jpg\" alt=\"\" width=\"300\" height=\"184\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group-300x184.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group-1024x627.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group-768x470.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group-640x392.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/WANG-group.jpg 1204w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in\u00a0ZFYVE19, which encodes a protein involved in division of cells and in regulation of the primary cilium (an incompletely understood structure in many but not all cells), that abolish ZFYVE19 protein expression underlie a form of bile-duct and liver disease for which children may require liver transplantation.\u00a0 This was not known before.\u00a0 Manifestations of\u00a0ZFYVE19\u00a0disease [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/biallelic-loss-of-function-zfyve19-mutations-are-associated-with-congenital-hepatic-fibrosis-sclerosing-cholangiopathy-and-high-ggt-cholestasis\/\">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-1510","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis (Contributed by Dr. Wei-Sha Luan) - 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\" 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