{"id":881,"date":"2016-04-12T18:33:57","date_gmt":"2016-04-12T18:33:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=881"},"modified":"2026-02-25T00:10:16","modified_gmt":"2026-02-25T00:10:16","slug":"microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/","title":{"rendered":"Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano)"},"content":{"rendered":"<p><em>SHOX<\/em> encodes a transcription factor involved in cell-cycle and growth regulation. Here, we report the association between microduplications at the <em>SHOX<\/em> locus and autism spectrum disorders (ASD) and related neurodevelopmental conditions (NDD). The study was triggered by observations in a discovery series of 90 ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation. A link between <em>SHOX<\/em> microduplications and ASD\/NDD was subsequently supported by examination of a follow-up sample of\u00a018,857 ASD\/NDD cases, compared with 12,594 controls. Our findings suggest that <em>SHOX<\/em> microduplications are a low penetrance risk\u00a0factor for ASD\/NDD, with increased risk in both sexes. However, concomitant duplication of <em>SHOX <\/em>enhancers may be required to trigger NDD in females. Since specific <em>SHOX<\/em> isoforms are exclusively expressed in the developing foetal brain, this may reflect the pathogenic effect of altered SHOX protein dosage on neurodevelopment. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/12\/jmedgenet-2015-103621\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/12\/jmedgenet-2015-103621<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg.jpg\" rel=\"attachment wp-att-882\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-882\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg-300x223.jpg\" alt=\"Photo_Dr. Maria Tropeano_jpg\" width=\"300\" height=\"223\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg-300x223.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg-768x571.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg-1024x762.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Dr. Maria Tropeano<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>SHOX encodes a transcription factor involved in cell-cycle and growth regulation. Here, we report the association between microduplications at the SHOX locus and autism spectrum disorders (ASD) and related neurodevelopmental conditions (NDD). The study was triggered by observations in a discovery series of 90 ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/\">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-881","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>Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano) - 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\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"SHOX encodes a transcription factor involved in cell-cycle and growth regulation. Here, we report the association between microduplications at the SHOX locus and autism spectrum disorders (ASD) and related neurodevelopmental conditions (NDD). The study was triggered by observations in a discovery series of 90 ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation. 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[...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/","og_site_name":"JMG Contact blog","article_published_time":"2016-04-12T18:33:57+00:00","article_modified_time":"2026-02-25T00:10:16+00:00","og_image":[{"width":2676,"height":1991,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg.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\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano)","datePublished":"2016-04-12T18:33:57+00:00","dateModified":"2026-02-25T00:10:16+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/"},"wordCount":168,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Photo_Dr.-Maria-Tropeano_jpg-300x223.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/","url":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/12\/microduplications-at-the-pseudoautosomal-shox-locus-in-autism-spectrum-disorders-and-related-neurodevelopmental-conditions\/","name":"Microduplications at the Pseudoautosomal SHOX Locus in Autism Spectrum Disorders and Related Neurodevelopmental Conditions (Contributed by Dr. Maria Tropeano) - 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