{"id":1710,"date":"2022-03-01T14:53:42","date_gmt":"2022-03-01T14:53:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1710"},"modified":"2026-02-23T01:03:17","modified_gmt":"2026-02-23T01:03:17","slug":"homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/","title":{"rendered":"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang)"},"content":{"rendered":"<p>As a highly specialized and evolutionarily conserved organelle, sperm flagellum provides the motile force for delivering the sperm to the egg. Fibrous sheath (FS), located in the principal piece of sperm flagella, serves as mechanical support for flagellar bending. Here, we identified two asthenoteratozoospermia-affected men carrying homozygous variants in <em>AKAP3<\/em>, encoding a FS associated protein. The deficiency of <em>AKAP3<\/em> leading to various morphological abnormalities in sperm flagella accompanied by partial acrosomal abnormalities. Furthermore, different ICSI outcomes were observed in men harbouring <em>AKAP3 <\/em>variants with different pathogenicity. In conclusion, our study revealed <em>AKAP3<\/em> as a novel gene involved in human asthenoteratozoospermia. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/27\/jmedgenet-2021-108271\">https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/27\/jmedgenet-2021-108271<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/fig-1-5\/\" rel=\"attachment wp-att-1711\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1711\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-300x251.jpg\" alt=\"\" width=\"300\" height=\"251\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-300x251.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-1024x855.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-768x641.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-1536x1283.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-2048x1710.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-640x534.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As a highly specialized and evolutionarily conserved organelle, sperm flagellum provides the motile force for delivering the sperm to the egg. Fibrous sheath (FS), located in the principal piece of sperm flagella, serves as mechanical support for flagellar bending. Here, we identified two asthenoteratozoospermia-affected men carrying homozygous variants in AKAP3, encoding a FS associated protein. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/\">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-1710","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - 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\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"As a highly specialized and evolutionarily conserved organelle, sperm flagellum provides the motile force for delivering the sperm to the egg. Fibrous sheath (FS), located in the principal piece of sperm flagella, serves as mechanical support for flagellar bending. Here, we identified two asthenoteratozoospermia-affected men carrying homozygous variants in AKAP3, encoding a FS associated protein. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-03-01T14:53:42+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:03:17+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"2138\" \/>\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\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang)\",\"datePublished\":\"2022-03-01T14:53:42+00:00\",\"dateModified\":\"2026-02-23T01:03:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/03\\\/Fig-1-300x251.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/03\\\/01\\\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\\\/\",\"name\":\"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - 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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":"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - 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\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/","og_locale":"en_US","og_type":"article","og_title":"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - JMG Contact blog","og_description":"As a highly specialized and evolutionarily conserved organelle, sperm flagellum provides the motile force for delivering the sperm to the egg. Fibrous sheath (FS), located in the principal piece of sperm flagella, serves as mechanical support for flagellar bending. Here, we identified two asthenoteratozoospermia-affected men carrying homozygous variants in AKAP3, encoding a FS associated protein. [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/","og_site_name":"JMG Contact blog","article_published_time":"2022-03-01T14:53:42+00:00","article_modified_time":"2026-02-23T01:03:17+00:00","og_image":[{"width":2560,"height":2138,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-scaled.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\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang)","datePublished":"2022-03-01T14:53:42+00:00","dateModified":"2026-02-23T01:03:17+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/"},"wordCount":122,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/03\/Fig-1-300x251.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/","url":"https:\/\/blogs.bmj.com\/jmg\/2022\/03\/01\/homozygous-variants-in-akap3-induce-asthenoteratozoospermia-and-male-infertility\/","name":"Homozygous Variants in AKAP3 Induce Asthenoteratozoospermia and Male Infertility (Contributed by Prof. Feng Zhang) - 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