{"id":1018,"date":"2017-08-24T02:27:41","date_gmt":"2017-08-24T02:27:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1018"},"modified":"2026-02-24T21:01:27","modified_gmt":"2026-02-24T21:01:27","slug":"autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/24\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\/","title":{"rendered":"Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz)"},"content":{"rendered":"<p>Individuals carrying single mutated copies of Collagen 10 alpha-1, (<em>COL10A1)<\/em> suffer from Metaphyseal chondrodysplasia, Schmid type, (MCDS), involving mild to moderate short stature and skeletal deformities of the limbs. We describe individuals with two mutated copies of <em>COL10A1<\/em>, exhibiting extreme short stature and severe lower limb deformities. However, individuals with single mutated copies had below average heights and no apparent skeletal defects. This mutation was located in the NC2 domain, in which no pathogenic variants have been described before. This is the first report of a <em>COL10A1<\/em> variant with autosomal recessive skeletal dysplasia and suggests that some <em>COL10A1<\/em> alleles may be involved in isolated short stature. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/22\/jmedgenet-2017-104885\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/22\/jmedgenet-2017-104885<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1019\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823-300x119.jpg\" alt=\"\" width=\"300\" height=\"119\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823-300x119.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823-768x305.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823-1024x407.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823.jpg 1652w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Individuals carrying single mutated copies of Collagen 10 alpha-1, (COL10A1) suffer from Metaphyseal chondrodysplasia, Schmid type, (MCDS), involving mild to moderate short stature and skeletal deformities of the limbs. We describe individuals with two mutated copies of COL10A1, exhibiting extreme short stature and severe lower limb deformities. However, individuals with single mutated copies had below [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/24\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\/\">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-1018","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>Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz) - 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\/2017\/08\/24\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Individuals carrying single mutated copies of Collagen 10 alpha-1, (COL10A1) suffer from Metaphyseal chondrodysplasia, Schmid type, (MCDS), involving mild to moderate short stature and skeletal deformities of the limbs. We describe individuals with two mutated copies of COL10A1, exhibiting extreme short stature and severe lower limb deformities. However, individuals with single mutated copies had below [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/24\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-08-24T02:27:41+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:01:27+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/blog823.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1652\" \/>\n\t<meta property=\"og:image:height\" content=\"656\" \/>\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\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz)\",\"datePublished\":\"2017-08-24T02:27:41+00:00\",\"dateModified\":\"2026-02-24T21:01:27+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/blog823-300x119.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/24\\\/autosomal-recessive-chondrodysplasia-with-severe-short-stature-caused-by-a-biallelic-col10a1-variant\\\/\",\"name\":\"Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant (Contributed by Dr. Sadaf Naz) - 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