{"id":1645,"date":"2021-07-04T17:17:36","date_gmt":"2021-07-04T17:17:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1645"},"modified":"2026-02-23T21:16:33","modified_gmt":"2026-02-23T21:16:33","slug":"hypermobile-ehlers-danlos-syndrome-heds-phenotype-in-fragile-x-premutation-carriers-case-series","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/07\/04\/hypermobile-ehlers-danlos-syndrome-heds-phenotype-in-fragile-x-premutation-carriers-case-series\/","title":{"rendered":"Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (Contributed by Dr. Nattaporn Tassanakijpanich)"},"content":{"rendered":"<p>Although hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, its genetic etiology is unclear. This study presents 5 cases who had both a hEDS phenotype and FMR1 premutation. In premutation carriers, a possible connection between both conditions could be explained by a depletion of fragile X mental retardation protein (FMRP), a major regulatory protein for extracellular matrix (ECM) function. An increase of FMR1 mRNA could be another possible link between the two conditions, as it could lead to RNA toxicity, mitochondrial dysfunction, and eventually tissue inflammation. Clinicians should recognize the occurrence of both conditions and consider testing for the premutation when evaluating those diagnosed who present with a hEDS phenotype. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/29\/jmedgenet-2020-107609\">https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/29\/jmedgenet-2020-107609<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Although hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, its genetic etiology is unclear. This study presents 5 cases who had both a hEDS phenotype and FMR1 premutation. In premutation carriers, a possible connection between both conditions could be explained by a depletion of fragile X mental retardation protein (FMRP), a major [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/07\/04\/hypermobile-ehlers-danlos-syndrome-heds-phenotype-in-fragile-x-premutation-carriers-case-series\/\">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-1645","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>Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (Contributed by Dr. Nattaporn Tassanakijpanich) - 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\/07\/04\/hypermobile-ehlers-danlos-syndrome-heds-phenotype-in-fragile-x-premutation-carriers-case-series\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series (Contributed by Dr. Nattaporn Tassanakijpanich) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Although hypermobile Ehlers-Danlos syndrome (hEDS) is the most common type of EDS, its genetic etiology is unclear. This study presents 5 cases who had both a hEDS phenotype and FMR1 premutation. 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