{"id":1494,"date":"2020-06-28T14:44:17","date_gmt":"2020-06-28T14:44:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1494"},"modified":"2026-02-23T23:54:37","modified_gmt":"2026-02-23T23:54:37","slug":"a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/28\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\/","title":{"rendered":"A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor Sadaf Naz)"},"content":{"rendered":"<p>Skeletal dysplasias are disorders which involve bone deformities and short stature. The genetic causes for some of these disorders are unknown. We describe for the first time a missense variant of a gene, GNPNAT1 which results in severe short stature in four patients due to extreme shortening of the proximal segments of the limbs. GNPNAT1 is one of the enzymes required for synthesis of uridine diphosphate N-acetylglucosamine, which participates in protein glycosylation. The variant affects the catalytic domain of the enzyme and likely impairs chondrocyte differentiation. Our findings implicate skeletal dysplasia due to GNPNAT1 variant as a novel disorder of glycosylation. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/26\/jmedgenet-2020-106929\">https:\/\/jmg.bmj.com\/content\/early\/2020\/06\/26\/jmedgenet-2020-106929<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/28\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\/image-for-blog2final\/\" rel=\"attachment wp-att-1495\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1495\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-300x202.jpg\" alt=\"\" width=\"300\" height=\"202\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-300x202.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-1024x689.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-768x516.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-1536x1033.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final-640x430.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final.jpg 2000w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Skeletal dysplasias are disorders which involve bone deformities and short stature. The genetic causes for some of these disorders are unknown. We describe for the first time a missense variant of a gene, GNPNAT1 which results in severe short stature in four patients due to extreme shortening of the proximal segments of the limbs. GNPNAT1 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/28\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\/\">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-1494","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>A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor 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\/2020\/06\/28\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor Sadaf Naz) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Skeletal dysplasias are disorders which involve bone deformities and short stature. The genetic causes for some of these disorders are unknown. We describe for the first time a missense variant of a gene, GNPNAT1 which results in severe short stature in four patients due to extreme shortening of the proximal segments of the limbs. GNPNAT1 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/06\/28\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-06-28T14:44:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:54:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/06\/Image-for-blog2final.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2000\" \/>\n\t<meta property=\"og:image:height\" content=\"1345\" \/>\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\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor Sadaf Naz)\",\"datePublished\":\"2020-06-28T14:44:17+00:00\",\"dateModified\":\"2026-02-23T23:54:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/06\\\/Image-for-blog2final-300x202.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/06\\\/28\\\/a-novel-form-of-rhizomelic-skeletal-dysplasia-associated-with-a-homozygous-variant-in-gnpnat1\\\/\",\"name\":\"A novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1 (Contributed by Professor Sadaf Naz) - 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