{"id":1743,"date":"2022-07-04T13:07:46","date_gmt":"2022-07-04T13:07:46","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1743"},"modified":"2026-02-23T00:48:29","modified_gmt":"2026-02-23T00:48:29","slug":"a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/04\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\/","title":{"rendered":"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain)"},"content":{"rendered":"<p>Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is a process known as epigenetic imprinting. This study describes an individual with the same symptoms as SRS without the typical DNA markers expected in an SRS case. We show that a diagnosis of SRS should be considered for people with the marker we have identified. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/04\/06\/jmedgenet-2021-108288\">https:\/\/jmg.bmj.com\/content\/early\/2022\/04\/06\/jmedgenet-2021-108288<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/04\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\/\">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-1743","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain) - 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\/2022\/07\/04\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genetic illnesses can be passed down from parents to children through markers in their DNA. Some diseases, such as Silver-Russel Syndrome (SRS), also depend on what parent you are inheriting this marker from. For example, inheriting the marker from your mother might be harmless but inheriting it from your father could cause disease. This is [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/04\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-07-04T13:07:46+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:48:29+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\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain)\",\"datePublished\":\"2022-07-04T13:07:46+00:00\",\"dateModified\":\"2026-02-23T00:48:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/\"},\"wordCount\":127,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/04\\\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\\\/\",\"name\":\"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain) - 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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":"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain) - 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\/2022\/07\/04\/a-132-bp-deletion-affecting-the-kcnq1ot1-gene-associated-with-silver-russell-syndrome-clinical-phenotype\/","og_locale":"en_US","og_type":"article","og_title":"A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype (Contributed by Dr. Eric Allain) - JMG Contact blog","og_description":"Genetic illnesses can be passed down from parents to children through markers in their DNA. 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