{"id":1459,"date":"2020-05-20T03:33:35","date_gmt":"2020-05-20T03:33:35","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1459"},"modified":"2026-02-24T00:04:29","modified_gmt":"2026-02-24T00:04:29","slug":"kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/20\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\/","title":{"rendered":"\u2018Kinesinopathies\u2019: emerging role of the kinesin family member genes in birth defects (Contributed by Silvia Kalantari and Isabel Filges)"},"content":{"rendered":"<p>Fetal structural anomalies can now be detected with increasing reliability during early pregnancy. The announcement of a serious conditionduring pregnancy or at birth is a devastating experience for the parents and the health professionals involved. The demand to find the cause is high to determine prognosis, clinical management and recurrence risks. \u00a0We review the current state of knowledge of the biological processes kinesin family member genes are involved in and discuss their emerging role in birth defects and congenital anomaly syndromes. We identify recurrent phenotype patterns caused by alterations in <em>KIF<\/em> genes, mirroring their fundamental role in cellular logistics. We suggest to understand these \u201ckinesinopathies\u201d as a recognizable entity with potential value for research approaches and clinical care. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/19\/jmedgenet-2019-106769\">https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/19\/jmedgenet-2019-106769<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/20\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\/unnamed-4\/\" rel=\"attachment wp-att-1460\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1460\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-300x296.jpg\" alt=\"\" width=\"300\" height=\"296\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-300x296.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-1024x1012.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-768x759.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-1536x1517.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-2048x2023.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-640x632.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fetal structural anomalies can now be detected with increasing reliability during early pregnancy. The announcement of a serious conditionduring pregnancy or at birth is a devastating experience for the parents and the health professionals involved. The demand to find the cause is high to determine prognosis, clinical management and recurrence risks. \u00a0We review the current [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/20\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\/\">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-1459","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>\u2018Kinesinopathies\u2019: emerging role of the kinesin family member genes in birth defects (Contributed by Silvia Kalantari and Isabel Filges) - 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\/05\/20\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u2018Kinesinopathies\u2019: emerging role of the kinesin family member genes in birth defects (Contributed by Silvia Kalantari and Isabel Filges) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Fetal structural anomalies can now be detected with increasing reliability during early pregnancy. The announcement of a serious conditionduring pregnancy or at birth is a devastating experience for the parents and the health professionals involved. The demand to find the cause is high to determine prognosis, clinical management and recurrence risks. \u00a0We review the current [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/20\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-05-20T03:33:35+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:04:29+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/unnamed-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"2529\" \/>\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\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"\u2018Kinesinopathies\u2019: emerging role of the kinesin family member genes in birth defects (Contributed by Silvia Kalantari and Isabel Filges)\",\"datePublished\":\"2020-05-20T03:33:35+00:00\",\"dateModified\":\"2026-02-24T00:04:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/\"},\"wordCount\":145,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/05\\\/unnamed-300x296.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/20\\\/kinesinopathies-emerging-role-of-the-kinesin-family-member-genes-in-birth-defects\\\/\",\"name\":\"\u2018Kinesinopathies\u2019: emerging role of the kinesin family member genes in birth defects (Contributed by Silvia Kalantari and Isabel Filges) - 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