{"id":2061,"date":"2025-05-03T15:41:30","date_gmt":"2025-05-03T15:41:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2061"},"modified":"2026-02-22T01:12:09","modified_gmt":"2026-02-22T01:12:09","slug":"rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/03\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\/","title":{"rendered":"Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett)"},"content":{"rendered":"<p>Scoliosis is the most common pediatric spinal deformity. Adolescent idiopathic scoliosis (AIS) comprises more than 80% of scoliosis and is influenced by genetic factors. Exome sequencing from 1,221 individuals with severe AIS (spinal curvatures \u2265 35 degrees) revealed aggregation of rare variants in several genes, including <em>RAF1 <\/em>(Noonan Syndrome), <em>FBN1 <\/em>(Marfan syndrome)<em>,<\/em> and <em>FNDC1 <\/em>(previously associated with joint hypermobility). The enrichment of variants in <em>FNDC1 <\/em>\u00a0was replicated in an independent Geisinger MyCode cohort. Fish studies suggest a role for <em>FNDC1<\/em> in bone mineral density indicating a potential mechanism. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/04\/29\/jmg-2024-110586\">https:\/\/jmg.bmj.com\/content\/early\/2025\/04\/29\/jmg-2024-110586<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Scoliosis is the most common pediatric spinal deformity. Adolescent idiopathic scoliosis (AIS) comprises more than 80% of scoliosis and is influenced by genetic factors. Exome sequencing from 1,221 individuals with severe AIS (spinal curvatures \u2265 35 degrees) revealed aggregation of rare variants in several genes, including RAF1 (Noonan Syndrome), FBN1 (Marfan syndrome), and FNDC1 (previously [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/03\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\/\">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-2061","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>Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett) - 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\/2025\/05\/03\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Scoliosis is the most common pediatric spinal deformity. Adolescent idiopathic scoliosis (AIS) comprises more than 80% of scoliosis and is influenced by genetic factors. Exome sequencing from 1,221 individuals with severe AIS (spinal curvatures \u2265 35 degrees) revealed aggregation of rare variants in several genes, including RAF1 (Noonan Syndrome), FBN1 (Marfan syndrome), and FNDC1 (previously [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/05\/03\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-05-03T15:41:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:12:09+00:00\" \/>\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\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett)\",\"datePublished\":\"2025-05-03T15:41:30+00:00\",\"dateModified\":\"2026-02-22T01:12:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/\"},\"wordCount\":110,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/05\\\/03\\\/rare-missense-variants-in-fndc1-are-associated-with-severe-adolescent-idiopathic-scoliosis\\\/\",\"name\":\"Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis (Contributed by Dr Christina A Gurnett) - 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