{"id":115,"date":"2011-03-05T21:36:24","date_gmt":"2011-03-05T21:36:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=115"},"modified":"2026-02-22T00:35:16","modified_gmt":"2026-02-22T00:35:16","slug":"c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/03\/05\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\/","title":{"rendered":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD)"},"content":{"rendered":"<p>Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory function.<\/p>\n<p>Proper function of the cilium requires active ciliary transport. We found a mutation in a gene associated with ciliary transport (C14ORF179) in a family with Sensenbrenner syndrome, and we show that indeed transport is disturbed in cilia of cells from Sensenbrenner patients. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/03\/04\/jmg.2011.088864.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/03\/04\/jmg.2011.088864.abstract?papetoc<\/a>= )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/03\/05\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\/\">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-115","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>C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD) - 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\/2011\/03\/05\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. Prominently, the skeleton, nails, teeth, and hair are affected. This can be accompanied by chronic kidney disease, retinal degeneration, and other features. Sensenbrenner syndrome results from dysfunction of the cilium, a protrusion of the cell surface that somewhat resembles an antenna, also regarding its sensory [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/03\/05\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-03-05T21:36:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:35:16+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD)\",\"datePublished\":\"2011-03-05T21:36:24+00:00\",\"dateModified\":\"2026-02-22T00:35:16+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/03\\\/05\\\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\\\/\",\"name\":\"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/03\/05\/c14orf179-encoding-ift43-is-mutated-in-sensenbrenner-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome (Contributed by Heleen Arts, PhD) - JMG Contact blog","og_description":"Sensenbrenner syndrome is a rare inherited disorder with dysmorphic symptoms. 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