{"id":1810,"date":"2023-01-05T15:16:49","date_gmt":"2023-01-05T15:16:49","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1810"},"modified":"2026-02-23T00:23:29","modified_gmt":"2026-02-23T00:23:29","slug":"biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/05\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\/","title":{"rendered":"Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (Contributed by Prof. Feng Zhang)"},"content":{"rendered":"<p>As important pathogenic factors of male infertility, severe multiple morphological abnormalities of the sperm flagella (MMAF) and nonobstructive azoospermia (NOA) are mostly considered to be of genetic origin. Here, we identified biallelic deleterious variants of <em>CFAP54<\/em> from three unrelated men with severe MMAF or NOA. <em>CFAP54<\/em> deficiency could cause various morphological and ultrastructural abnormalities in sperm flagella. Furthermore, <em>CFAP54-<\/em>deficient men could obtain good clinical outcomes after intracytoplasmic sperm injection (ICSI) treatment. In conclusion, this study revealed <em>CFAP54<\/em> as a novel gene involved in human male infertility, and provided a vital reference for personalized genetic counselling and ICSI treatment. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/01\/01\/jmg-2022-108887\">https:\/\/jmg.bmj.com\/content\/early\/2023\/01\/01\/jmg-2022-108887<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/05\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\/fig-2\/\" rel=\"attachment wp-att-1811\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1811\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2-300x263.png\" alt=\"\" width=\"300\" height=\"263\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2-300x263.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2-1024x898.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2-768x674.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2-640x562.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2.png 1533w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As important pathogenic factors of male infertility, severe multiple morphological abnormalities of the sperm flagella (MMAF) and nonobstructive azoospermia (NOA) are mostly considered to be of genetic origin. Here, we identified biallelic deleterious variants of CFAP54 from three unrelated men with severe MMAF or NOA. CFAP54 deficiency could cause various morphological and ultrastructural abnormalities in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/05\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\/\">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-1810","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>Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (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\/2023\/01\/05\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (Contributed by Prof. Feng Zhang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"As important pathogenic factors of male infertility, severe multiple morphological abnormalities of the sperm flagella (MMAF) and nonobstructive azoospermia (NOA) are mostly considered to be of genetic origin. Here, we identified biallelic deleterious variants of CFAP54 from three unrelated men with severe MMAF or NOA. CFAP54 deficiency could cause various morphological and ultrastructural abnormalities in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/05\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-01-05T15:16:49+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:23:29+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/fig-2.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1533\" \/>\n\t<meta property=\"og:image:height\" content=\"1345\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (Contributed by Prof. Feng Zhang)\",\"datePublished\":\"2023-01-05T15:16:49+00:00\",\"dateModified\":\"2026-02-23T00:23:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/\"},\"wordCount\":124,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/01\\\/fig-2-300x263.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/05\\\/biallelic-mutations-in-cfap54-cause-male-infertility-with-severe-mmaf-and-noa\\\/\",\"name\":\"Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA (Contributed by Prof. Feng Zhang) - 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