{"id":1293,"date":"2019-06-09T15:36:34","date_gmt":"2019-06-09T15:36:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1293"},"modified":"2026-02-24T00:38:08","modified_gmt":"2026-02-24T00:38:08","slug":"distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/09\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\/","title":{"rendered":"Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler)"},"content":{"rendered":"<p>In this article, the authors test for enrichment of copy number variants (CNVs) at 55 well-characterized hotspots of recurrent copy number variation within a large cohort of isolated adolescent idiopathic scoliosis (AIS) patients. Of these 55 hotspots, only distal 16p11.2 duplications were enriched in AIS cases compared to control individuals. The authors replicated this finding in a second cohort of AIS patients and observed an increased rate of age-related scoliosis among 16p11.2 duplications carriers in a large population-based cohort. Together, the authors demonstrate a strong link between distal 16p11.2 duplications and scoliosis risk. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/02\/25\/jmedgenet-2018-105877\">https:\/\/jmg.bmj.com\/content\/early\/2019\/02\/25\/jmedgenet-2018-105877<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/09\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\/sadler_photo\/\" rel=\"attachment wp-att-1294\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1294\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/06\/Sadler_photo-99x300.jpeg\" alt=\"\" width=\"99\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/06\/Sadler_photo-99x300.jpeg 99w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/06\/Sadler_photo.jpeg 265w\" sizes=\"auto, (max-width: 99px) 100vw, 99px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In this article, the authors test for enrichment of copy number variants (CNVs) at 55 well-characterized hotspots of recurrent copy number variation within a large cohort of isolated adolescent idiopathic scoliosis (AIS) patients. Of these 55 hotspots, only distal 16p11.2 duplications were enriched in AIS cases compared to control individuals. The authors replicated this finding [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/09\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\/\">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-1293","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>Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler) - 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\/2019\/06\/09\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In this article, the authors test for enrichment of copy number variants (CNVs) at 55 well-characterized hotspots of recurrent copy number variation within a large cohort of isolated adolescent idiopathic scoliosis (AIS) patients. Of these 55 hotspots, only distal 16p11.2 duplications were enriched in AIS cases compared to control individuals. The authors replicated this finding [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/06\/09\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-06-09T15:36:34+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:38:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/06\/Sadler_photo.jpeg\" \/>\n\t<meta property=\"og:image:width\" content=\"265\" \/>\n\t<meta property=\"og:image:height\" content=\"800\" \/>\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\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler)\",\"datePublished\":\"2019-06-09T15:36:34+00:00\",\"dateModified\":\"2026-02-24T00:38:08+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/\"},\"wordCount\":115,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/06\\\/Sadler_photo-99x300.jpeg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/06\\\/09\\\/distal-chromosome-16p11-2-duplications-containing-sh2b1-in-patients-with-scoliosis\\\/\",\"name\":\"Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis (Contributed by Dr. Brooke Sadler) - 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