{"id":2008,"date":"2024-09-27T19:50:09","date_gmt":"2024-09-27T19:50:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2008"},"modified":"2026-02-22T01:36:10","modified_gmt":"2026-02-22T01:36:10","slug":"pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/09\/27\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\/","title":{"rendered":"Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (Contributed by Professor Yuri Z\u00e1rate)"},"content":{"rendered":"<p>Our study describes eight individuals with SATB2-associated syndrome (SAS), an autosomal dominant disorder caused by variants in the SATB2 gene and characterized by developmental delay, behavioral challenges, craniofacial\/dental problems, growth delay, and skeletal anomalies, all with variable severity. The individuals included carry genetic variants that affect the exact same location in the SATB2 protein but result in different amino acid changes. Through various experiments, we document for the first time that different genetic SATB2 variants in the same location can affect its protein function differently, consistent with differences we observed in phenotype severity in the affected individuals. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/09\/26\/jmg-2024-110015\">https:\/\/jmg.bmj.com\/content\/early\/2024\/09\/26\/jmg-2024-110015<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our study describes eight individuals with SATB2-associated syndrome (SAS), an autosomal dominant disorder caused by variants in the SATB2 gene and characterized by developmental delay, behavioral challenges, craniofacial\/dental problems, growth delay, and skeletal anomalies, all with variable severity. The individuals included carry genetic variants that affect the exact same location in the SATB2 protein but [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/09\/27\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\/\">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-2008","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>Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (Contributed by Professor Yuri Z\u00e1rate) - 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\/2024\/09\/27\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (Contributed by Professor Yuri Z\u00e1rate) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our study describes eight individuals with SATB2-associated syndrome (SAS), an autosomal dominant disorder caused by variants in the SATB2 gene and characterized by developmental delay, behavioral challenges, craniofacial\/dental problems, growth delay, and skeletal anomalies, all with variable severity. The individuals included carry genetic variants that affect the exact same location in the SATB2 protein but [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/09\/27\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-09-27T19:50:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:36:10+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\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (Contributed by Professor Yuri Z\u00e1rate)\",\"datePublished\":\"2024-09-27T19:50:09+00:00\",\"dateModified\":\"2026-02-22T01:36:10+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/09\\\/27\\\/pathogenic-satb2-missense-variants-affecting-p-gly392-have-variable-functional-implications-and-result-in-diverse-clinical-phenotypes\\\/\",\"name\":\"Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (Contributed by Professor Yuri Z\u00e1rate) - 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