{"id":640,"date":"2014-03-04T02:20:38","date_gmt":"2014-03-04T02:20:38","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=640"},"modified":"2026-02-25T19:49:48","modified_gmt":"2026-02-25T19:49:48","slug":"cgg-allele-size-somatic-mosaicism-and-methylation-in-fmr1-premutation-alleles","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/03\/04\/cgg-allele-size-somatic-mosaicism-and-methylation-in-fmr1-premutation-alleles\/","title":{"rendered":"CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles (Contributed by Dr. Dalyir I. Pretto)"},"content":{"rendered":"<p>Premutation alleles within the\u00a0<i>FMR1<\/i>\u00a0gene are usually unmethylated and have an increased risk of developing a number of clinical phenotypes that fall under the umbrella of\u00a0<i>FMR1<\/i>-associated conditions. In this study, we report on a group of premutation carriers who show partial methylation and in some cases we demonstrate the presence of intra and inter-tissue mosaicism. In addition, our findings indicate that the percent of methylation of alleles correlate with the number of clinical symptoms suggesting that methylation may be an indicator for penetrance of the disorder in those cases who present with epigenetic modifications within the gene. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/03\/jmedgenet-2013-102021\">http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/03\/jmedgenet-2013-102021<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Premutation alleles within the\u00a0FMR1\u00a0gene are usually unmethylated and have an increased risk of developing a number of clinical phenotypes that fall under the umbrella of\u00a0FMR1-associated conditions. In this study, we report on a group of premutation carriers who show partial methylation and in some cases we demonstrate the presence of intra and inter-tissue mosaicism. In [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/03\/04\/cgg-allele-size-somatic-mosaicism-and-methylation-in-fmr1-premutation-alleles\/\">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-640","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles (Contributed by Dr. Dalyir I. Pretto) - 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\/2014\/03\/04\/cgg-allele-size-somatic-mosaicism-and-methylation-in-fmr1-premutation-alleles\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles (Contributed by Dr. Dalyir I. Pretto) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Premutation alleles within the\u00a0FMR1\u00a0gene are usually unmethylated and have an increased risk of developing a number of clinical phenotypes that fall under the umbrella of\u00a0FMR1-associated conditions. In this study, we report on a group of premutation carriers who show partial methylation and in some cases we demonstrate the presence of intra and inter-tissue mosaicism. 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