{"id":1788,"date":"2022-11-11T19:35:36","date_gmt":"2022-11-11T19:35:36","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1788"},"modified":"2026-02-23T00:29:22","modified_gmt":"2026-02-23T00:29:22","slug":"homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/11\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\/","title":{"rendered":"Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan)"},"content":{"rendered":"<p>Golgi enzymes involved in N-glycan processing are critical for brain development, deficiencies in many leads to congenital disorders of glycosylation (CDG) with multisystem effects, particularly affecting the brain. Our study presents the first report of pathogenic variants in MAN2A2, causing a novel autosomal recessive CDG with neurological involvement. We identified a multiplex consanguineous family with a homozygous truncating variant, p.Val1101Ter in MAN2A2. Here, we also present the development of a cell-based complementation assay to assess the pathogenicity of MAN2A2 variants, which can also be extended to MAN2A1 variants for future diagnosis and to screen potential drugs or therapies for MAN2A1\/MAN2A2-CDG in the future. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/10\/jmg-2022-108821\">https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/10\/jmg-2022-108821<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/11\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\/untitled-64\/\" rel=\"attachment wp-att-1789\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1789\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-1-300x130.jpg\" alt=\"\" width=\"300\" height=\"130\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-1-300x130.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-1.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Golgi enzymes involved in N-glycan processing are critical for brain development, deficiencies in many leads to congenital disorders of glycosylation (CDG) with multisystem effects, particularly affecting the brain. Our study presents the first report of pathogenic variants in MAN2A2, causing a novel autosomal recessive CDG with neurological involvement. We identified a multiplex consanguineous family with [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/11\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\/\">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-1788","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>Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan) - 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\/2022\/11\/11\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Golgi enzymes involved in N-glycan processing are critical for brain development, deficiencies in many leads to congenital disorders of glycosylation (CDG) with multisystem effects, particularly affecting the brain. Our study presents the first report of pathogenic variants in MAN2A2, causing a novel autosomal recessive CDG with neurological involvement. We identified a multiplex consanguineous family with [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/11\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-11-11T19:35:36+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:29:22+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"640\" \/>\n\t<meta property=\"og:image:height\" content=\"278\" \/>\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\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan)\",\"datePublished\":\"2022-11-11T19:35:36+00:00\",\"dateModified\":\"2026-02-23T00:29:22+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/\"},\"wordCount\":142,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/11\\\/Untitled-1-300x130.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/11\\\/homozygous-truncating-variant-in-man2a2-causes-a-novel-congenital-disorder-of-glycosylation-with-neurological-involvement\\\/\",\"name\":\"Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (Contributed by Dr. Sonal Mahajan) - 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