{"id":1504,"date":"2020-08-01T13:44:17","date_gmt":"2020-08-01T13:44:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1504"},"modified":"2026-02-23T23:52:59","modified_gmt":"2026-02-23T23:52:59","slug":"prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\/","title":{"rendered":"Prenatal clinical manifestations in individuals with COL4A1\/2 variants (Contributed by Dr. Satoko Miyatake)"},"content":{"rendered":"<p>Heterozygous pathogenic <em>COL4A1\/2 <\/em>variants cause early-onset cerebrovascular diseases, including porencephaly and schizencephaly. Although most of them are developed during prenatal periods, little had been known about their prenatal clinical features. We identified 56 individuals with pathogenic <em>COL4A1\/2 <\/em>variants, and obtained prenatal clinical information in 47 individuals. Only about 30% of them exhibited prenatal findings that were strongly suggestive of features associated with <em>COL4A1\/2<\/em> variants. In contrast, non-specific findings such as ventriculomegaly (shown in photos) and fetal growth restriction were the major prenatal initial signs of <em>COL4A1\/2-<\/em>related disorders. Our work extends the prenatal phenotypic varieties of <em>COL4A1\/2-<\/em>related disorders, and it would be valuable for the consideration of the prenatal genetic diagnosis of <em>COL4A1\/2-<\/em>related disorders. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/30\/jmedgenet-2020-106896\">https:\/\/jmg.bmj.com\/content\/early\/2020\/07\/30\/jmedgenet-2020-106896<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\/photo_jmg_blog\/\" rel=\"attachment wp-att-1505\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1505\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog-300x118.png\" alt=\"\" width=\"300\" height=\"118\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog-300x118.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog-768x303.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog-640x253.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog.png 836w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Deformed ventriculomegaly are prenatally seen in two patients at 34 (left) and 30 (right) weeks of gestation.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Heterozygous pathogenic COL4A1\/2 variants cause early-onset cerebrovascular diseases, including porencephaly and schizencephaly. Although most of them are developed during prenatal periods, little had been known about their prenatal clinical features. We identified 56 individuals with pathogenic COL4A1\/2 variants, and obtained prenatal clinical information in 47 individuals. Only about 30% of them exhibited prenatal findings that [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\/\">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-1504","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>Prenatal clinical manifestations in individuals with COL4A1\/2 variants (Contributed by Dr. Satoko Miyatake) - 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\/08\/01\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prenatal clinical manifestations in individuals with COL4A1\/2 variants (Contributed by Dr. Satoko Miyatake) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Heterozygous pathogenic COL4A1\/2 variants cause early-onset cerebrovascular diseases, including porencephaly and schizencephaly. Although most of them are developed during prenatal periods, little had been known about their prenatal clinical features. We identified 56 individuals with pathogenic COL4A1\/2 variants, and obtained prenatal clinical information in 47 individuals. Only about 30% of them exhibited prenatal findings that [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/01\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-01T13:44:17+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:52:59+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/Photo_JMG_blog.png\" \/>\n\t<meta property=\"og:image:width\" content=\"836\" \/>\n\t<meta property=\"og:image:height\" content=\"330\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Prenatal clinical manifestations in individuals with COL4A1\\\/2 variants (Contributed by Dr. Satoko Miyatake)\",\"datePublished\":\"2020-08-01T13:44:17+00:00\",\"dateModified\":\"2026-02-23T23:52:59+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/\"},\"wordCount\":156,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/Photo_JMG_blog-300x118.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/01\\\/prenatal-clinical-manifestations-in-individuals-with-col4a1-2-variants\\\/\",\"name\":\"Prenatal clinical manifestations in individuals with COL4A1\\\/2 variants (Contributed by Dr. Satoko Miyatake) - 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