{"id":620,"date":"2014-01-13T20:00:04","date_gmt":"2014-01-13T20:00:04","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=620"},"modified":"2026-02-25T19:52:27","modified_gmt":"2026-02-25T19:52:27","slug":"recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Professor Csilla Krausz)"},"content":{"rendered":"

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 (MAGEA9<\/i> and HSFX1\/2) <\/i>and it <\/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. (http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/13\/jmedgenet-2013-101988<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n

Read More…<\/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-620","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nRecurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - 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\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-01-13T20:00:04+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:52:27+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\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz)\",\"datePublished\":\"2014-01-13T20:00:04+00:00\",\"dateModified\":\"2026-02-25T19:52:27+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/\"},\"wordCount\":139,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/\",\"name\":\"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2014-01-13T20:00:04+00:00\",\"dateModified\":\"2026-02-25T19:52:27+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/01\\\/13\\\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - 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\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/","og_locale":"en_US","og_type":"article","og_title":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - JMG Contact blog","og_description":"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 [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/","og_site_name":"JMG Contact blog","article_published_time":"2014-01-13T20:00:04+00:00","article_modified_time":"2026-02-25T19:52:27+00:00","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\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz)","datePublished":"2014-01-13T20:00:04+00:00","dateModified":"2026-02-25T19:52:27+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/"},"wordCount":139,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/","url":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/","name":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2014-01-13T20:00:04+00:00","dateModified":"2026-02-25T19:52:27+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2014\/01\/13\/recurrent-x-chromosome-linked-deletions-discovery-of-new-genetic-factors-in-male-infertility\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility (Contributed by Professor Csilla Krausz)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). 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\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/620","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=620"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/620\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=620"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=620"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=620"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}