{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T07:14:40Z","timestamp":1775978080200,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,22]],"date-time":"2020-06-22T00:00:00Z","timestamp":1592784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"the Finance Department Health Special Project of Jilin Province, China","award":["JLSCZD2019-022"],"award-info":[{"award-number":["JLSCZD2019-022"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Isolated hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare genetic diseases that cause male infertility. The chromodomain helicase DNA\u2010binding protein 7 (<jats:italic>CHD7<\/jats:italic>) gene is commonly associated with KS and IHH. We speculated that <jats:italic>CHD7<\/jats:italic> variants may be associated with male infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two hundred males with azoospermia and 120 with oligozoospermia were recruited. The patients underwent clinical examination and reproductive hormone testing. A panel of genes including <jats:italic>CHD7<\/jats:italic> and others related to spermatogenic failure was sequenced by targeted\u2010gene exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three patients with severe oligozoospermia had <jats:italic>CHD7<\/jats:italic> variants (a detection rate of 0.94% (3\/320)). After prediction software analysis, two of the variants c.3464G&gt;A (p.R1155H) and c.4516G&gt;A (p.G1506S) were predicted to be likely pathogenic. Although predicted to be benign, the variants of c.2824A&gt;G (p.T942A) located in the chromodomain 2 could not be excluded as disease causing. The patients with variants had small testicular volumes. In particular, the testes of the patient with a p.G1506S variant varied in size (left, 8\u00a0ml; right, 4.5\u00a0ml). Two patients (patients 31 and 120) had low E2 levels and two (patients 83 and 120) had low T levels. Ultimately, these variants were classified as \u201cvariants of unknown significant\u201d that may be associated with male infertility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>There may be a relationship between the <jats:italic>CHD7<\/jats:italic> gene missense variants and male infertility. These variants are easier to find in patients with azoospermia and severe oligospermia whose testosterone levels are decreased.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1372","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T05:33:20Z","timestamp":1592890400000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>CHD7<\/i> missense variants and clinical characteristics of Chinese males with infertility"],"prefix":"10.1002","volume":"8","author":[{"given":"Leilei","family":"Li","sequence":"first","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruixue","family":"Wang","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Yu","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuting","family":"Jiang","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Yang","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3386-7765","authenticated-orcid":false,"given":"Ruizhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Centre for Reproductive Medicine and Prenatal Diagnosis First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22106"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2005.08.044"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2015.112"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/b978\u20100\u201012\u2010571141\u20108.50015\u20109"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2010.02.005"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201038178\u2010y"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102265.2009.03746.x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3803\/EnM.2015.30.4.456"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl198"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102605.2003.00402.x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41585\u2010018\u20100003\u20103"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0039450"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014\u20102110"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2006.07.012"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0600962103"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066494"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.086983.108"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1635054100"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/16.5.972"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000011284"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ucl.2013.08.006"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000013493"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dep343"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33323"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2018.04.010"}],"container-title":["Molecular Genetics &amp; 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