{"id":1490,"date":"2020-06-24T16:47:28","date_gmt":"2020-06-24T16:47:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1490"},"modified":"2026-02-23T23:55:54","modified_gmt":"2026-02-23T23:55:54","slug":"loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/","title":{"rendered":"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa)"},"content":{"rendered":"<p>Various kinds of genetic and epigenetic changes can cause growth failure before and after birth. Through screening of a cohort of babies born small for gestational age, we have encountered a 6-year-old boy with prenatal growth restriction and some specific physical features. Detailed molecular analyses have revealed epigenetic alteration (epimutation) of the ZNF597 gene on chromosome 16. This is the first report describing the possible relationship between the ZNF597 gene and growth failure in children. (Epi)genetic test for ZNF597 may be worth considering for small babies of unknown etiology. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/23\/jmedgenet-2020-107019\">https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/23\/jmedgenet-2020-107019<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/figure-1-6\/\" rel=\"attachment wp-att-1491\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1491\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-300x243.jpg\" alt=\"\" width=\"300\" height=\"243\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-300x243.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-1024x828.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-768x621.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-1536x1242.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-640x517.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019.jpg 1941w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Various kinds of genetic and epigenetic changes can cause growth failure before and after birth. Through screening of a cohort of babies born small for gestational age, we have encountered a 6-year-old boy with prenatal growth restriction and some specific physical features. Detailed molecular analyses have revealed epigenetic alteration (epimutation) of the ZNF597 gene on [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-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-1490","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>Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa) - 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\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Various kinds of genetic and epigenetic changes can cause growth failure before and after birth. Through screening of a cohort of babies born small for gestational age, we have encountered a 6-year-old boy with prenatal growth restriction and some specific physical features. Detailed molecular analyses have revealed epigenetic alteration (epimutation) of the ZNF597 gene on [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-06-24T16:47:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:55:54+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1941\" \/>\n\t<meta property=\"og:image:height\" content=\"1569\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa)\",\"datePublished\":\"2020-06-24T16:47:28+00:00\",\"dateModified\":\"2026-02-23T23:55:54+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/\"},\"wordCount\":125,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/06\\\/picture-jmedgenet-2020-107019-300x243.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/24\\\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\\\/\",\"name\":\"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa) - 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Through screening of a cohort of babies born small for gestational age, we have encountered a 6-year-old boy with prenatal growth restriction and some specific physical features. Detailed molecular analyses have revealed epigenetic alteration (epimutation) of the ZNF597 gene on [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2020-06-24T16:47:28+00:00","article_modified_time":"2026-02-23T23:55:54+00:00","og_image":[{"width":1941,"height":1569,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019.jpg","type":"image\/jpeg"}],"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\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa)","datePublished":"2020-06-24T16:47:28+00:00","dateModified":"2026-02-23T23:55:54+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/"},"wordCount":125,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/picture-jmedgenet-2020-107019-300x243.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/24\/loss-of-imprinting-of-the-human-specific-imprinted-gene-znf597-causes-prenatal-growth-retardation-and-dysmorphic-features-implications-for-phenotypic-overlap-with-silver-russell-syndrome\/","name":"Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome (Contributed by Dr. Kazuki Yamazawa) - 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