{"id":1582,"date":"2020-12-02T00:36:06","date_gmt":"2020-12-02T00:36:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1582"},"modified":"2026-02-23T23:12:38","modified_gmt":"2026-02-23T23:12:38","slug":"linkage-analysis-identifies-an-isolated-strabismus-locus-at-14q12-overlapping-with-foxg1-syndrome-region","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/12\/02\/linkage-analysis-identifies-an-isolated-strabismus-locus-at-14q12-overlapping-with-foxg1-syndrome-region\/","title":{"rendered":"Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (Contributed by Cynthia Ye)"},"content":{"rendered":"<p style=\"margin: 0in\"><span lang=\"EN-CA\" style=\"color: #0e101a\">Over 2,400 years ago, Hippocrates noticed that eye misalignment, or strabismus, tended to cluster in families. This observation represents an early recognition of what we now recognize as genetic causes. However, genetic causes of isolated strabismus, which occur in the absence of other symptoms, remain elusive. <\/span><\/p>\n<p style=\"margin: 0in\"><span lang=\"EN-CA\" style=\"color: #0e101a\">\u00a0<\/span><\/p>\n<p style=\"margin: 0in\"><span lang=\"EN-CA\" style=\"color: #0e101a\">In a large family, we identify a piece of chromosome 14 that is linked to isolated strabismus. Larger disruptions in the same portion of chromosome 14 cause FOXG1 syndrome, and 84% of these individuals have strabismus. Strabismic individuals from this study share a four-letters deletion in the DNA sequence. A previous study of mouse brain development suggests this specific location in the DNA may function by changing when or where the\u00a0<em>FOXG1<\/em> gene is active. (<\/span><a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/11\/29\/jmedgenet-2020-107226\">https:\/\/jmg.bmj.com\/content\/early\/2020\/11\/29\/jmedgenet-2020-107226<\/a> )<\/p>\n<p><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Over 2,400 years ago, Hippocrates noticed that eye misalignment, or strabismus, tended to cluster in families. This observation represents an early recognition of what we now recognize as genetic causes. However, genetic causes of isolated strabismus, which occur in the absence of other symptoms, remain elusive. \u00a0 In a large family, we identify a piece [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/12\/02\/linkage-analysis-identifies-an-isolated-strabismus-locus-at-14q12-overlapping-with-foxg1-syndrome-region\/\">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-1582","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>Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (Contributed by Cynthia Ye) - 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\/12\/02\/linkage-analysis-identifies-an-isolated-strabismus-locus-at-14q12-overlapping-with-foxg1-syndrome-region\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (Contributed by Cynthia Ye) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Over 2,400 years ago, Hippocrates noticed that eye misalignment, or strabismus, tended to cluster in families. 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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":"Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (Contributed by Cynthia Ye) - 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\/2020\/12\/02\/linkage-analysis-identifies-an-isolated-strabismus-locus-at-14q12-overlapping-with-foxg1-syndrome-region\/","og_locale":"en_US","og_type":"article","og_title":"Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region (Contributed by Cynthia Ye) - JMG Contact blog","og_description":"Over 2,400 years ago, Hippocrates noticed that eye misalignment, or strabismus, tended to cluster in families. 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