{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T16:16:06Z","timestamp":1761581766624,"version":"3.37.3"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,11,18]],"date-time":"2018-11-18T00:00:00Z","timestamp":1542499200000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"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"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7162152"],"award-info":[{"award-number":["7162152"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of <jats:italic>CFTR<\/jats:italic> caused the majority of CBAVD cases, and <jats:italic>ADGRG2<\/jats:italic> was recently identified as a new pathogenic gene. Yet, most of the genetic evidence came from sporadic cases, and only one mutation in <jats:italic>CFTR<\/jats:italic> can be found in patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In present study, we collected two CBAVD pedigrees, each having two affected male siblings. We performed whole exome sequencing on all patients and validated all potential variants by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We excluded <jats:italic>ADGRG2<\/jats:italic> variants but identified compound heterozygous variants of <jats:italic>CFTR<\/jats:italic> in both families (NM_000492.3:c.1210\u201033_1210\u20106GT[13]T[5] and c.4056G&gt;C;p.Gln1352Cys in pedigree 1, c.592G&gt;C;p.Ala198Pro and c.3717G&gt;A;p.Arg1239= in pedigree 2), which were subsequently validated by direct sequencing. c.1210\u201033_1210\u20106GT[13]T[5] (also known as IVS8\u2010T5\u2010TG13) was a known disease\u2010causing variant causing the skipping of exon 9 of CFTR and inherited from the proband's mother. p.Gln1352Cys and Ala198Pro were rare or novel in public databases and predicted to be deleterious. The p.Arg1239= was a synonymous variant but located at the end of an exon, which was predicted to alter the splicing pattern.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study, in which compound heterozygous variants were identified in two pedigrees, provides more familial evidence that only recessive variants (homozygous or compound heterozygous) in <jats:italic>CFTR<\/jats:italic> cause CBAVD. Furthermore, whole exome sequencing may be utilized as a useful tool for mutation screening of genes causing CBAVD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.486","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T05:44:42Z","timestamp":1542606282000},"page":"1097-1103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Compound heterozygous mutations in <i>CFTR<\/i> causing CBAVD in Chinese pedigrees"],"prefix":"10.1002","volume":"6","author":[{"given":"Bin","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Urology Union Medical College Hospital, Chinese Academy of Medical Science Peking Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Genetics National Research Institute for Family Planning Haidian, Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Genetics National Research Institute for Family Planning Haidian, Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongjun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology Union Medical College Hospital, Chinese Academy of Medical Science Peking Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1597-5930","authenticated-orcid":false,"given":"Binbin","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Genetics National Research Institute for Family Planning Haidian, Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1569-1993(02)00144-3"},{"key":"e_1_2_10_3_1","article-title":"A Survey of the common mutations and IVS8\u2010Tn polymorphism of cystic fibrosis transmembrane conductance regulator gene in infertile men with nonobstructive azoospermia and CBAVD in Iranian population","author":"Asadi F.","year":"2018","journal-title":"Iran Biomedical Journal"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.05.108"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90446-6"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01258.x"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199506013322204"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-151"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1472-6483(10)60801-2"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI639"},{"issue":"6","key":"e_1_2_10_11_1","first-page":"1185","article-title":"Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians","volume":"50","author":"Cutting G. 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