{"id":1424,"date":"2020-03-14T12:48:28","date_gmt":"2020-03-14T12:48:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1424"},"modified":"2026-02-24T00:14:47","modified_gmt":"2026-02-24T00:14:47","slug":"bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/14\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\/","title":{"rendered":"Bi-allelic variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility (Contributed by Prof. Charles COUTTON)"},"content":{"rendered":"<p>Multiple morphological abnormalities of the sperm flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility. Despite numerous genes described to be associated with MMAF, more than half of the cases analyzed remain unresolved, suggesting that many yet uncharacterized gene defects account for this phenotype. In this study, we identified six unrelated MMAF patients carrying a homozygous deleterious variant in <em>MAATS1<\/em> encoding the CFAP91 protein.We also studied a flagellated protist, <em>Trypanosoma brucei, <\/em>and showed that the inactivation of TbCFAP91 in the parasite induced flagellar beating and ultrasctructural defects. Altogether our findings confirm that <em>MAATS1 <\/em>biallelic mutations lead to sperm motility impairment and primary male infertility. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/10\/jmedgenet-2019-106775\">https:\/\/jmg.bmj.com\/content\/early\/2020\/03\/10\/jmedgenet-2019-106775<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Multiple morphological abnormalities of the sperm flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility. Despite numerous genes described to be associated with MMAF, more than half of the cases analyzed remain unresolved, suggesting that many yet uncharacterized gene defects account for this phenotype. In this study, we identified [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/14\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-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-1424","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 variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility (Contributed by Prof. Charles COUTTON) - 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\/03\/14\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bi-allelic variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility (Contributed by Prof. Charles COUTTON) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Multiple morphological abnormalities of the sperm flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility. Despite numerous genes described to be associated with MMAF, more than half of the cases analyzed remain unresolved, suggesting that many yet uncharacterized gene defects account for this phenotype. In this study, we identified [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/03\/14\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-03-14T12:48:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:14:47+00:00\" \/>\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\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Bi-allelic variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility (Contributed by Prof. Charles COUTTON)\",\"datePublished\":\"2020-03-14T12:48:28+00:00\",\"dateModified\":\"2026-02-24T00:14:47+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/\"},\"wordCount\":142,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/03\\\/14\\\/bi-allelic-variants-in-maats1-encoding-cfap91-a-calmodulin-and-spoke-associated-complex-protein-cause-severe-astheno-teratozoospermia-and-male-infertility\\\/\",\"name\":\"Bi-allelic variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility (Contributed by Prof. Charles COUTTON) - 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