{"id":1723,"date":"2022-04-15T13:42:39","date_gmt":"2022-04-15T13:42:39","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1723"},"modified":"2026-02-23T00:53:48","modified_gmt":"2026-02-23T00:53:48","slug":"bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/15\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\/","title":{"rendered":"Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan)"},"content":{"rendered":"<p>Oligoasthenoteratozoospermia (OAT) has become a major male infertility phenotype with a highly genetically heterogeneous. However, the genetic basis underlying most OAT cases remained to be elucidated. In this study, Hu et al. found <em>CFAP61<\/em> variants cause OAT in humans and mice, and abnormal spermiation was present in male <em>Cfap61<sup>-\/-<\/sup><\/em>mice, which might be a new mechanism of OAT caused by <em>CFAP61<\/em> deficiency. Those OAT-affected men with <em>CFAP61<\/em> variants can be treated with intracytoplasmic sperm injection. This study will expand the candidate genes associated with OAT and will be informative for genetic and reproductive counseling. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/04\/05\/jmedgenet-2021-108249\">https:\/\/jmg.bmj.com\/content\/early\/2022\/04\/05\/jmedgenet-2021-108249<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/15\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\/untitled-54\/\" rel=\"attachment wp-att-1724\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1724\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-258x300.jpg\" alt=\"\" width=\"258\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-258x300.jpg 258w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-882x1024.jpg 882w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-768x892.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-1323x1536.jpg 1323w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-1764x2048.jpg 1764w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-640x743.jpg 640w\" sizes=\"auto, (max-width: 258px) 100vw, 258px\" \/><\/a><\/p>\n<p>Figure: Identification of bi-allelic <em>CFAP61<\/em> variants in men with oligoasthenoteratozoospermia (OAT). (A-B) Pedigree analysis of the two families affected by bi-allelic <em>CFAP61<\/em> variants that were identified by whole-exome sequencing (WES).(C) Localization of variations in the genome and protein structures.\u00a0 (D) The conservation of the three variants was analyzed across different species.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Oligoasthenoteratozoospermia (OAT) has become a major male infertility phenotype with a highly genetically heterogeneous. However, the genetic basis underlying most OAT cases remained to be elucidated. In this study, Hu et al. found CFAP61 variants cause OAT in humans and mice, and abnormal spermiation was present in male Cfap61-\/-mice, which might be a new mechanism [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/15\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\/\">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-1723","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>Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan) - 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\/2022\/04\/15\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Oligoasthenoteratozoospermia (OAT) has become a major male infertility phenotype with a highly genetically heterogeneous. However, the genetic basis underlying most OAT cases remained to be elucidated. In this study, Hu et al. found CFAP61 variants cause OAT in humans and mice, and abnormal spermiation was present in male Cfap61-\/-mice, which might be a new mechanism [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/04\/15\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-04-15T13:42:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:53:48+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/04\/Untitled-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2204\" \/>\n\t<meta property=\"og:image:height\" content=\"2560\" \/>\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\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan)\",\"datePublished\":\"2022-04-15T13:42:39+00:00\",\"dateModified\":\"2026-02-23T00:53:48+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/\"},\"wordCount\":174,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/04\\\/Untitled-258x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/04\\\/15\\\/bi-allelic-cfap61-variants-cause-male-infertility-in-humans-and-mice-with-severe-oligoasthenoteratozoospermia\\\/\",\"name\":\"Bi-allelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia (Contributed by Dr. Yue-Qiu Tan) - 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