{"id":1433,"date":"2020-03-17T13:50:06","date_gmt":"2020-03-17T13:50:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1433"},"modified":"2026-02-24T00:12:51","modified_gmt":"2026-02-24T00:12:51","slug":"a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/17\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\/","title":{"rendered":"A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy (Contributed by Dr. Macarena Cabrera)"},"content":{"rendered":"<p>A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and poor muscle tone from birth, which progressed to respiratory failure causing death at an early age. Examination and ancillary tests showed a severe peripheral neuropathy, but not central nervous system abnormalities were observed. A homozygous novel UBA5 p. Arg11Trp pathogenic variant was identified as the cause of the disease. The finding is interesting because mutation in UBA5 are known to cause other neurodegenerative phenotypes, involving central nervous system, but prominent involvement of the peripheral nervous system had not been described before. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/16\/jmedgenet-2019-106496\">https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/16\/jmedgenet-2019-106496<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and poor muscle tone from birth, which progressed to respiratory failure causing death at an early age. Examination and ancillary tests showed a severe peripheral neuropathy, but not central nervous system abnormalities were observed. A homozygous novel [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/17\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\/\">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-1433","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>A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy (Contributed by Dr. Macarena Cabrera) - 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\/03\/17\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy (Contributed by Dr. Macarena Cabrera) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and poor muscle tone from birth, which progressed to respiratory failure causing death at an early age. Examination and ancillary tests showed a severe peripheral neuropathy, but not central nervous system abnormalities were observed. A homozygous novel [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/17\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-03-17T13:50:06+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:12:51+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\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy (Contributed by Dr. Macarena Cabrera)\",\"datePublished\":\"2020-03-17T13:50:06+00:00\",\"dateModified\":\"2026-02-24T00:12:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/17\\\/a-homozygous-uba5-pathogenic-variant-causes-a-fatal-congenital-neuropathy\\\/\",\"name\":\"A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy (Contributed by Dr. Macarena Cabrera) - 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