{"id":1077,"date":"2018-01-13T19:59:27","date_gmt":"2018-01-13T19:59:27","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=1077"},"modified":"2018-01-13T19:59:27","modified_gmt":"2018-01-13T19:59:27","slug":"dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2018\/01\/13\/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing\/","title":{"rendered":"DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing"},"content":{"rendered":"<p>It is vital important to produce functional sperms and oocytes for animals with sexual reproduction, including humans. Meiosis is a common mechanism involved in gametogenesis. However, few meiosis genes were reported to result in disorders of both spermatogenesis and oogenesis in a family. In this manuscript, Tan et al. described two siblings with severe infertility features due to meiotic arrest from a consanguineous Chinese family. The brother suffered from non-obstructive azoospermia (NOA), and the sister was diagnosed with premature ovarian insufficiency (POI). By whole-exome sequencing, they identified a <em>DMC1<\/em> mutation that might be responsible for the infertility of both genders. This unprecedented finding provides an example that a germline mutation in a meiosis-related gene can cause both NOA in males and POI in females. (By Dr. Yue-Qiu Tan, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2018\/01\/13\/jmedgenet-2017-104992\">http:\/\/jmg.bmj.com\/content\/early\/2018\/01\/13\/jmedgenet-2017-104992<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>It is vital important to produce functional sperms and oocytes for animals with sexual reproduction, including humans. Meiosis is a common mechanism involved in gametogenesis. However, few meiosis genes were reported to result in disorders of both spermatogenesis and oogenesis in a family. In this manuscript, Tan et al. described two siblings with severe infertility [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2018\/01\/13\/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1077","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1077","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1077"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1077\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1077"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1077"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1077"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}