{"id":1668,"date":"2021-10-21T14:10:30","date_gmt":"2021-10-21T14:10:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1668"},"modified":"2026-02-23T21:10:48","modified_gmt":"2026-02-23T21:10:48","slug":"sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/21\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\/","title":{"rendered":"SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault)"},"content":{"rendered":"<p>SOX10 is a transcription factor involved in development of the neural crest and of a few non-neural crest derivatives. It has been involved in human disease (Waardenburg-Hirschsprung disease; type 4 Waardenbur syndrome) in 1998. Since then, the phenotypic spectrum has been broadened several times and now goes from mild to life-threatening phenotype. In this review, we summarize the current knowledge concerning this phenotypic continuum, the molecular aspects of SOX10 mutations, the fundamental bases of its function in close link with the patients\u2019 features and the main ideas to keep in mind when considering this gene in human diagnosis. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/10\/19\/jmedgenet-2021-108105\">https:\/\/jmg.bmj.com\/content\/early\/2021\/10\/19\/jmedgenet-2021-108105<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/21\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\/untitled-49\/\" rel=\"attachment wp-att-1669\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1669\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/Untitled-1-300x113.png\" alt=\"\" width=\"300\" height=\"113\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/Untitled-1-300x113.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/Untitled-1-640x240.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/Untitled-1.png 717w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>SOX10 is a transcription factor involved in development of the neural crest and of a few non-neural crest derivatives. It has been involved in human disease (Waardenburg-Hirschsprung disease; type 4 Waardenbur syndrome) in 1998. Since then, the phenotypic spectrum has been broadened several times and now goes from mild to life-threatening phenotype. In this review, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/21\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\/\">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-1668","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>SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault) - 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\/2021\/10\/21\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"SOX10 is a transcription factor involved in development of the neural crest and of a few non-neural crest derivatives. It has been involved in human disease (Waardenburg-Hirschsprung disease; type 4 Waardenbur syndrome) in 1998. Since then, the phenotypic spectrum has been broadened several times and now goes from mild to life-threatening phenotype. In this review, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/10\/21\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-10-21T14:10:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:10:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/10\/Untitled-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"717\" \/>\n\t<meta property=\"og:image:height\" content=\"269\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault)\",\"datePublished\":\"2021-10-21T14:10:30+00:00\",\"dateModified\":\"2026-02-23T21:10:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/10\\\/Untitled-1-300x113.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/10\\\/21\\\/sox10-twenty-years-of-phenotypic-plurality-and-current-understanding-of-its-developmental-function\\\/\",\"name\":\"SOX10: twenty years of phenotypic plurality and current understanding of its developmental function (Contributed by Dr. Veronique Pingault) - 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