{"id":1654,"date":"2021-08-30T01:37:22","date_gmt":"2021-08-30T01:37:22","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1654"},"modified":"2026-02-23T21:13:51","modified_gmt":"2026-02-23T21:13:51","slug":"biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/","title":{"rendered":"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1)"},"content":{"rendered":"<p>We describe the first patient with a homozygous disease-causing missense variant in GINS2, a gene that encodes for a component of the DNA replication machinery. Our patient presented with craniosynostosis and fulfilled the clinical diagnosis of Meier-Gorlin syndrome (MGORS), including prenatal and postnatal growth delay, hypoplastic patellar, and typical craniofacial dysmorphisms, such as microtia. The patient\u2019s phenotype is strikingly similar to the phenotype of individuals with CDC45 variants, particularly those who presented with craniosynostosis and mild MGORS features. In summary, we propose GINS2 as a new disease-associated gene, expanding the genetic aetiology of MGORS. (<a href=\"http:\/\/dx.doi.org\/10.1136\/jmedgenet-2020-107572\">http:\/\/dx.doi.org\/10.1136\/jmedgenet-2020-107572<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/gins2_jmg-blog\/\" rel=\"attachment wp-att-1655\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1655\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-300x135.jpg\" alt=\"\" width=\"300\" height=\"135\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-300x135.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-1024x460.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-768x345.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-640x287.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog.jpg 1172w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We describe the first patient with a homozygous disease-causing missense variant in GINS2, a gene that encodes for a component of the DNA replication machinery. Our patient presented with craniosynostosis and fulfilled the clinical diagnosis of Meier-Gorlin syndrome (MGORS), including prenatal and postnatal growth delay, hypoplastic patellar, and typical craniofacial dysmorphisms, such as microtia. The [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/\">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-1654","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>Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1) - 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\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We describe the first patient with a homozygous disease-causing missense variant in GINS2, a gene that encodes for a component of the DNA replication machinery. Our patient presented with craniosynostosis and fulfilled the clinical diagnosis of Meier-Gorlin syndrome (MGORS), including prenatal and postnatal growth delay, hypoplastic patellar, and typical craniofacial dysmorphisms, such as microtia. The [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-08-30T01:37:22+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:13:51+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1172\" \/>\n\t<meta property=\"og:image:height\" content=\"526\" \/>\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\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1)\",\"datePublished\":\"2021-08-30T01:37:22+00:00\",\"dateModified\":\"2026-02-23T21:13:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/\"},\"wordCount\":119,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/08\\\/GINS2_JMG-blog-300x135.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/08\\\/30\\\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\\\/\",\"name\":\"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1) - 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The [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/","og_site_name":"JMG Contact blog","article_published_time":"2021-08-30T01:37:22+00:00","article_modified_time":"2026-02-23T21:13:51+00:00","og_image":[{"width":1172,"height":526,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog.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\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1)","datePublished":"2021-08-30T01:37:22+00:00","dateModified":"2026-02-23T21:13:51+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/"},"wordCount":119,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/08\/GINS2_JMG-blog-300x135.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/","url":"https:\/\/blogs.bmj.com\/jmg\/2021\/08\/30\/biallelic-gins2-variant-p-arg114leu-causes-meier-gorlin-syndrome-with-craniosynostosis\/","name":"Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis (Contributed by Dr Maria J Nabais S\u00e1) - 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