{"id":1989,"date":"2024-08-01T16:38:34","date_gmt":"2024-08-01T16:38:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1989"},"modified":"2026-02-22T01:40:39","modified_gmt":"2026-02-22T01:40:39","slug":"double-gonosomal-mosaicism-as-an-unusual-hereditary-mechanism-in-familial-grin2a-related-disorder","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/01\/double-gonosomal-mosaicism-as-an-unusual-hereditary-mechanism-in-familial-grin2a-related-disorder\/","title":{"rendered":"Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder (Contributed by Dr. Valentina Cetica)"},"content":{"rendered":"<p>We studied a family where a mother passed on two different genetic variants at the same nucleotide in the <em>GRIN2A<\/em> gene to her children. Both variants disrupt the gene function. The son manifest epilepsy and intellectual disability, while the daughter and the mother exhibit language impairment and learning difficulties. The mother carries both variants, with one present in a small number of her cells. This complex genetic landscape complicates diagnosis since standard methods might miss minor variants. Specific technology is needed to detect such conditions, which might be more common than previously thought, severely affecting diagnostic accuracy and genetic counselling. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/07\/31\/jmg-2024-110101\">https:\/\/jmg.bmj.com\/content\/early\/2024\/07\/31\/jmg-2024-110101<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/01\/double-gonosomal-mosaicism-as-an-unusual-hereditary-mechanism-in-familial-grin2a-related-disorder\/figureblog\/\" rel=\"attachment wp-att-1990\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1990\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog-300x169.jpg\" alt=\"\" width=\"300\" height=\"169\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog-300x169.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog-1024x576.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog-768x432.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog-640x360.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/08\/FigureBlog.jpg 1280w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We studied a family where a mother passed on two different genetic variants at the same nucleotide in the GRIN2A gene to her children. Both variants disrupt the gene function. The son manifest epilepsy and intellectual disability, while the daughter and the mother exhibit language impairment and learning difficulties. The mother carries both variants, with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/01\/double-gonosomal-mosaicism-as-an-unusual-hereditary-mechanism-in-familial-grin2a-related-disorder\/\">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-1989","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>Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder (Contributed by Dr. Valentina Cetica) - 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\/08\/01\/double-gonosomal-mosaicism-as-an-unusual-hereditary-mechanism-in-familial-grin2a-related-disorder\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder (Contributed by Dr. Valentina Cetica) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We studied a family where a mother passed on two different genetic variants at the same nucleotide in the GRIN2A gene to her children. 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