{"id":620,"date":"2014-01-13T20:00:04","date_gmt":"2014-01-13T20:00:04","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=620"},"modified":"2014-01-13T20:00:04","modified_gmt":"2014-01-13T20:00:04","slug":"recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/","title":{"rendered":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility"},"content":{"rendered":"<p>The etiology of altered spermatogenesis is \u00a0unknown in about 40% of cases and a large proportion of it is likely related to still unknown genetic factors. The identification of \u00a0the \u201cmissing\u201d genetic causes is of importance both for genetic counseling and for the development\u00a0 of\u00a0 future etiologic therapies. Our study, by screening over 1200 subjects (infertile versus normozoospermic men) provided the first evidence for three X chromosome-linked recurrent deletions associated to spermatogenic impairment. One of them, CNV67, is likely to affect two genes with testis specific expression (<i>MAGEA9<\/i> and <i>HSFX1\/2) <\/i>and it<i> <\/i>was absent in normozoospermic controls. Due to its relatively high frequency in oligo\/azoospermic men (1.1% ) the deletion has potential clinical and basic research \u00a0implications. (By Professor Csilla Krausz, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-101988\">http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-101988<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The etiology of altered spermatogenesis is \u00a0unknown in about 40% of cases and a large proportion of it is likely related to still unknown genetic factors. The identification of \u00a0the \u201cmissing\u201d genetic causes is of importance both for genetic counseling and for the development\u00a0 of\u00a0 future etiologic therapies. Our study, by screening over 1200 subjects [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/\">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-620","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\/620","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=620"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/620\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=620"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=620"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=620"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}