{"id":531,"date":"2013-05-18T06:15:46","date_gmt":"2013-05-18T06:15:46","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=531"},"modified":"2026-02-25T20:11:41","modified_gmt":"2026-02-25T20:11:41","slug":"loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/","title":{"rendered":"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD)"},"content":{"rendered":"<p>Kaufman oculocerebrofacial syndrome (KOS) is a rare disorder affecting development and growth originally recognized 40 years ago. KOS is characterised by microcephaly, mental retardation, ocular anomalies, distinctive facial features, generalised hypotonia, and reduced growth. In this paper, exome sequencing was employed to identify <i>UBE3B<\/i>, encoding an E3 ubiquitin-protein ligase, as the gene mutated in KOS. Molecular data demonstrate that this disorder is a clinically homogeneous, recessive trait caused by UBE3B loss of function. This finding further demonstrates the impact of misregulation of protein ubiquitination on development and growth. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/16\/jmedgenet-2012-101405\">http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/16\/jmedgenet-2012-101405<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Kaufman oculocerebrofacial syndrome (KOS) is a rare disorder affecting development and growth originally recognized 40 years ago. KOS is characterised by microcephaly, mental retardation, ocular anomalies, distinctive facial features, generalised hypotonia, and reduced growth. In this paper, exome sequencing was employed to identify UBE3B, encoding an E3 ubiquitin-protein ligase, as the gene mutated in KOS. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-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-531","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>Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, 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\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Kaufman oculocerebrofacial syndrome (KOS) is a rare disorder affecting development and growth originally recognized 40 years ago. KOS is characterised by microcephaly, mental retardation, ocular anomalies, distinctive facial features, generalised hypotonia, and reduced growth. In this paper, exome sequencing was employed to identify UBE3B, encoding an E3 ubiquitin-protein ligase, as the gene mutated in KOS. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-05-18T06:15:46+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:11:41+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\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD)\",\"datePublished\":\"2013-05-18T06:15:46+00:00\",\"dateModified\":\"2026-02-25T20:11:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/\"},\"wordCount\":116,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\\\/\",\"name\":\"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD) - 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[...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2013-05-18T06:15:46+00:00","article_modified_time":"2026-02-25T20:11:41+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD)","datePublished":"2013-05-18T06:15:46+00:00","dateModified":"2026-02-25T20:11:41+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/"},"wordCount":116,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/loss-of-function-of-the-e3-ubiquitin-protein-ligase-ube3b-causes-kaufman-oculocerebrofacial-syndrome\/","name":"Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome (Contributed by Marco Tartaglia, PhD) - 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