{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:28:00Z","timestamp":1790616480172,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T00:00:00Z","timestamp":1502668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370698"],"award-info":[{"award-number":["81370698"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671448"],"award-info":[{"award-number":["81671448"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Congenital bilateral absence of the vas deferens (<jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content>) is an important cause of obstructive azoospermia and male infertility worldwide. Cystic fibrosis transmembrane conductance regulator (<jats:italic><jats:styled-content style=\"fixed-case\">CFTR<\/jats:styled-content><\/jats:italic>) mutations are the main pathogenic cause, although a proportion of cases are still unexplained. Recently, adhesion G protein\u2010coupled receptor G2 (<jats:italic><jats:styled-content style=\"fixed-case\">ADGRG<\/jats:styled-content>2<\/jats:italic>) gene, a novel pathogenic gene for <jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content> was identified. We did a single population replication study in Chinese <jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content> patients to replicate its role in <jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content> developing. In this study, we performed whole\u2010exome sequencing in 18 unrelated <jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content> patients and identified two missense variants in two patients (c.G1709A, p.C570Y; and c.A2968G, p.K990E). Both variants were predicted to be deleterious and highly conserved in silico. The p.C570Y variant is located in the G protein\u2010coupled receptor (<jats:styled-content style=\"fixed-case\">GPCR<\/jats:styled-content>) proteolysis site domain, which is functionally necessary for autoproteolysis, while the p.K990E variant is in the N\u2010terminal fragment that may regulate activity of the adhesion <jats:styled-content style=\"fixed-case\">GPCR<\/jats:styled-content>. We did not find any potential pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">CFTR<\/jats:styled-content><\/jats:italic> variants, implying the <jats:italic><jats:styled-content style=\"fixed-case\">ADGRG<\/jats:styled-content>2<\/jats:italic> variants are the genetic cause in these patients. To the best of our knowledge, these are the first two <jats:italic><jats:styled-content style=\"fixed-case\">ADGRG<\/jats:styled-content>2<\/jats:italic> variants to be identified in Chinese <jats:styled-content style=\"fixed-case\">CBAVD<\/jats:styled-content> patients, which further validate the disease\u2010causing role of <jats:italic><jats:styled-content style=\"fixed-case\">ADGRG<\/jats:styled-content>2<\/jats:italic> in this congenital defect.<\/jats:p>","DOI":"10.1111\/andr.12407","type":"journal-article","created":{"date-parts":[[2017,8,14]],"date-time":"2017-08-14T15:26:42Z","timestamp":1502724402000},"page":"954-957","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["Pathogenic role of <i><scp>ADGRG<\/scp>2<\/i> in <scp>CBAVD<\/scp> patients replicated in Chinese population"],"prefix":"10.1111","volume":"5","author":[{"given":"B.","family":"Yang","sequence":"first","affiliation":[{"name":"Department of 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