{"id":1197,"date":"2018-11-10T23:09:57","date_gmt":"2018-11-10T23:09:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1197"},"modified":"2026-02-24T15:35:20","modified_gmt":"2026-02-24T15:35:20","slug":"novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/","title":{"rendered":"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He)"},"content":{"rendered":"<p>The article found two novel CFAP69 pathogenic variants in a cohort of 35 asthenoteratospermia with short, coiled and irregular flagella. The authors also generated Cfap69 knockout mouse and found the similar sperm flagella defects in mice. This article provide a strong evidence of the CFAP69 variants and asthenoteratospermia. These findings indicate that asthenoteratospermia with special phenotype has strong genetic causes. Doctors should take full consideration of these genetic factors when they deal with these kind of asthenoteratospermia, as most of these patients cannot be treated with conventional drugs. Assisted Reproductive Technology should be the preferred choice for fertility request.\u00a0 (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/11\/10\/jmedgenet-2018-105486\">https:\/\/jmg.bmj.com\/content\/early\/2018\/11\/10\/jmedgenet-2018-105486<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/pic-for-blog\/\" rel=\"attachment wp-att-1198\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1198\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog-291x300.jpg\" alt=\"\" width=\"291\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog-291x300.jpg 291w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog.jpg 578w\" sizes=\"auto, (max-width: 291px) 100vw, 291px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The article found two novel CFAP69 pathogenic variants in a cohort of 35 asthenoteratospermia with short, coiled and irregular flagella. The authors also generated Cfap69 knockout mouse and found the similar sperm flagella defects in mice. This article provide a strong evidence of the CFAP69 variants and asthenoteratospermia. These findings indicate that asthenoteratospermia with special [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/\">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-1197","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>Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He) - 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\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The article found two novel CFAP69 pathogenic variants in a cohort of 35 asthenoteratospermia with short, coiled and irregular flagella. The authors also generated Cfap69 knockout mouse and found the similar sperm flagella defects in mice. This article provide a strong evidence of the CFAP69 variants and asthenoteratospermia. These findings indicate that asthenoteratospermia with special [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-11-10T23:09:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:35:20+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"578\" \/>\n\t<meta property=\"og:image:height\" content=\"596\" \/>\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\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He)\",\"datePublished\":\"2018-11-10T23:09:57+00:00\",\"dateModified\":\"2026-02-24T15:35:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/11\\\/pic-for-blog-291x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/11\\\/10\\\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\\\/\",\"name\":\"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He) - 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These findings indicate that asthenoteratospermia with special [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/","og_site_name":"JMG Contact blog","article_published_time":"2018-11-10T23:09:57+00:00","article_modified_time":"2026-02-24T15:35:20+00:00","og_image":[{"width":578,"height":596,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He)","datePublished":"2018-11-10T23:09:57+00:00","dateModified":"2026-02-24T15:35:20+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/"},"wordCount":130,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/11\/pic-for-blog-291x300.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/","url":"https:\/\/blogs.bmj.com\/jmg\/2018\/11\/10\/novel-homozygous-cfap69-mutations-in-humans-and-mice-cause-severe-asthenoteratospermia-with-multiple-morphological-abnormalities-of-the-sperm-flagella\/","name":"Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella (Contributed by Dr. Xiaojin He) - 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