{"id":2153,"date":"2026-03-06T16:43:52","date_gmt":"2026-03-06T16:43:52","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2153"},"modified":"2026-03-06T16:43:52","modified_gmt":"2026-03-06T16:43:52","slug":"mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/","title":{"rendered":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)"},"content":{"rendered":"

This study identified a novel gene \u2013 MGRN1<\/em>\u00a0(mahogunin ring finger 1) \u2013 implicated in congenital fetal malformations. A family experienced two pregnancies with fetuses presenting unexplained severe heart and laterality defects. \u2018Genomic autopsy\u2019 of affected cases uncovered a rare homozygous defect in\u00a0MGRN1, <\/em>regulating early development and left-right patterning. The observed human malformations closely resembled developmental defects observed in\u00a0Mgrn1<\/em>-deficient mouse models, strengthening the biological link. Our findings highlight the power of detailed genetic investigation after fetal death, including previously unknown disease genes. Such discoveries improve diagnosis, clarify recurrence risks, and support families in making informed decisions about future pregnancies. (https:\/\/jmg.bmj.com\/content\/early\/2026\/03\/04\/jmg-2025-111380<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

This study identified a novel gene \u2013 MGRN1\u00a0(mahogunin ring finger 1) \u2013 implicated in congenital fetal malformations. A family experienced two pregnancies with fetuses presenting unexplained severe heart and laterality defects. \u2018Genomic autopsy\u2019 of affected cases uncovered a rare homozygous defect in\u00a0MGRN1, regulating early development and left-right patterning. The observed human malformations closely resembled developmental […]<\/p>\n

Read More…<\/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-2153","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - 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\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This study identified a novel gene \u2013 MGRN1\u00a0(mahogunin ring finger 1) \u2013 implicated in congenital fetal malformations. A family experienced two pregnancies with fetuses presenting unexplained severe heart and laterality defects. \u2018Genomic autopsy\u2019 of affected cases uncovered a rare homozygous defect in\u00a0MGRN1, regulating early development and left-right patterning. The observed human malformations closely resembled developmental [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-03-06T16:43:52+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<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)\",\"datePublished\":\"2026-03-06T16:43:52+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/\"},\"wordCount\":126,\"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\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/\",\"name\":\"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2026-03-06T16:43:52+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/06\\\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/","og_locale":"en_US","og_type":"article","og_title":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - JMG Contact blog","og_description":"This study identified a novel gene \u2013 MGRN1\u00a0(mahogunin ring finger 1) \u2013 implicated in congenital fetal malformations. A family experienced two pregnancies with fetuses presenting unexplained severe heart and laterality defects. \u2018Genomic autopsy\u2019 of affected cases uncovered a rare homozygous defect in\u00a0MGRN1, regulating early development and left-right patterning. The observed human malformations closely resembled developmental [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/","og_site_name":"JMG Contact blog","article_published_time":"2026-03-06T16:43:52+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)","datePublished":"2026-03-06T16:43:52+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/"},"wordCount":126,"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\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/","url":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/","name":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2026-03-06T16:43:52+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/06\/mgrn1-is-linked-to-recessive-heart-and-laterality-defects-the-first-genotype-phenotype-report-in-humans-contributed-by-laura-kasak\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"MGRN1 is linked to recessive heart and laterality defects: the first genotype-phenotype report in humans (Contributed by Laura Kasak)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2153","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=2153"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2153\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2153"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2153"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2153"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}