{"id":2142,"date":"2026-02-05T15:17:20","date_gmt":"2026-02-05T15:17:20","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2142"},"modified":"2026-02-22T00:11:05","modified_gmt":"2026-02-22T00:11:05","slug":"expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/05\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\/","title":{"rendered":"Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch)"},"content":{"rendered":"<p>Pulmonary arterial hypertension (PAH) is a rare blood vessel disorder that can be fatal. The development of PAH in early childhood, often accompanied by other medical issues, is likely caused by genetic factors but few of the underlying genes have been identified. By connecting doctors and researchers around the world, we identified\u00a0<em>MECOM<\/em>, a master regulator of embryonic development and blood cell formation, as a candidate gene for PAH associated with other medical features. Genetic variants in<em>\u00a0MECOM<\/em>\u00a0cause a pediatric-onset condition associated with bone marrow failure and skeletal, heart, and other abnormalities at birth or early in life. Protein modeling suggested that patient mutations may cause PAH and congenital heart disease by dysregulation of blood vessel development, growth, and maintenance. The novel association of PAH with\u00a0<em>MECOM <\/em>syndrome could have significant implications for clinical monitoring and management of all individuals with rare\u00a0<em>MECOM<\/em> variants. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2026\/01\/29\/jmg-2025-111027\">https:\/\/jmg.bmj.com\/content\/early\/2026\/01\/29\/jmg-2025-111027<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pulmonary arterial hypertension (PAH) is a rare blood vessel disorder that can be fatal. The development of PAH in early childhood, often accompanied by other medical issues, is likely caused by genetic factors but few of the underlying genes have been identified. By connecting doctors and researchers around the world, we identified\u00a0MECOM, a master regulator [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/05\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\/\">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-2142","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>Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch) - 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\/2026\/02\/05\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pulmonary arterial hypertension (PAH) is a rare blood vessel disorder that can be fatal. The development of PAH in early childhood, often accompanied by other medical issues, is likely caused by genetic factors but few of the underlying genes have been identified. By connecting doctors and researchers around the world, we identified\u00a0MECOM, a master regulator [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/05\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-02-05T15:17:20+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:11:05+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\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch)\",\"datePublished\":\"2026-02-05T15:17:20+00:00\",\"dateModified\":\"2026-02-22T00:11:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/\"},\"wordCount\":174,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/05\\\/expanding-the-phenotypic-spectrum-of-mecom-associated-syndrome-rare-variants-are-associated-with-syndromic-pulmonary-arterial-hypertension\\\/\",\"name\":\"Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension (Contributed by Carrie L Welch) - 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