{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:29:06Z","timestamp":1790616546601,"version":"4.1.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T00:00:00Z","timestamp":1634774400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2019\u00a0J01521"],"award-info":[{"award-number":["2019\u00a0J01521"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2018\u00a0J01350"],"award-info":[{"award-number":["2018\u00a0J01350"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Congenital absence of the vas deferens (CAVD), a congenital malformation of the male reproductive system, causes obstructive azoospermia and male infertility. Currently, the cystic fibrosis transmembrane conductance regulator (CFTR) has been recognized as the main pathogenic gene in CAVD, with some other genes, such as adhesion G-protein-coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3), sodium channel epithelial 1 subunit beta (SCNN1B), and carbonic anhydrase 12 (CA12), being candidate genes in the pathogenesis of CAVD. However, the frequency and spectrum of these mutations, as well as the pathogenic mechanisms of CAVD, have not been fully investigated. Here, we sequenced all genes with potentially pathogenic mutations using next-generation sequencing and verified all identified variants by Sanger sequencing. Further bioinformatic analysis was performed to predict the pathogenicity of mutations. We described the distribution of the p.V470M, poly-T, and TG-repeat CFTR polymorphisms and identified novel missense mutations in the CFTR and SLC9A3 genes, respectively. Taken together, we identified mutations in the CFTR, ADGRG2, SLC9A3, SCNN1B, and CA12 genes in 22 patients with CAVD, thus broadening the genetic spectrum of Chinese patients with CAVD.<\/jats:p>","DOI":"10.1093\/biolre\/ioab194","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T12:58:07Z","timestamp":1634821087000},"page":"108-117","source":"Crossref","is-referenced-by-count":6,"title":["Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study"],"prefix":"10.1093","volume":"106","author":[{"given":"Mao-Qing","family":"Tan","sequence":"first","affiliation":[{"name":"Laboratory of Basic Medicine, 900TH Hospital of Joint Logistics Support Force, Fuzhou, Fujian, P.R. China"},{"name":"Department of Clinical Laboratory, Dongfang Hospital Affiliated to Xiamen University, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wu-Jian","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, 900TH Hospital of Joint Logistic Support Force, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng-Hua","family":"Lan","sequence":"additional","affiliation":[{"name":"Laboratory of Basic Medicine, 900TH Hospital of Joint Logistics Support Force, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Jun","family":"Xu","sequence":"additional","affiliation":[{"name":"Laboratory of Basic Medicine, 900TH Hospital of Joint Logistics Support Force, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Yu","family":"Zheng","sequence":"additional","affiliation":[{"name":"Laboratory of Basic Medicine, 900TH Hospital of Joint Logistics Support Force, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Tang","sequence":"additional","affiliation":[{"name":"Laboratory of Basic Medicine, 900TH Hospital of Joint Logistics Support Force, Fuzhou, Fujian, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,10,21]]},"reference":[{"key":"2022011317374567500_ref1","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1038\/s41436-018-0262-7","article-title":"CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies","volume":"21","author":"Cai","year":"2019","journal-title":"Genet Med"},{"key":"2022011317374567500_ref2","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1016\/j.fertnstert.2015.07.1143","article-title":"Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens","volume":"104","author":"Yang","year":"2015","journal-title":"Fertil Steril"},{"key":"2022011317374567500_ref3","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/j.1439-0272.2000.tb02859.x","article-title":"Clinical findings in congenital absence of the vasa deferentia","volume":"32","author":"Weiske","year":"2000","journal-title":"Andrologia"},{"key":"2022011317374567500_ref4","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1007\/s10815-020-01779-6","article-title":"A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens","volume":"37","author":"Wu","year":"2020","journal-title":"J Assist Reprod Genet"},{"key":"2022011317374567500_ref5","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/andr.12592","article-title":"Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles","volume":"7","author":"Yuan","year":"2019","journal-title":"Andrology"},{"key":"2022011317374567500_ref6","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/mgg3.486","article-title":"Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees","volume":"6","author":"Yang","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2022011317374567500_ref7","doi-asserted-by":"crossref","DOI":"10.1016\/S1569-9056(18)31593-8","article-title":"SLC9A3 is a novel pathogenic gene in Taiwanese males with congenital bilateral absence of the vas deferens","volume":"17","author":"Wu","year":"2018","journal-title":"Eur Urol Suppl"},{"key":"2022011317374567500_ref8","doi-asserted-by":"crossref","DOI":"10.1016\/S1569-9056(16)60823-0","article-title":"821 loss of SLC9A3 can decrease the expression of Cftr gene in the male reproductive tract of mice and may potentially have the possibility to treat cystic fibrosis","volume":"15","author":"Wang","year":"2016","journal-title":"Eur Urol Suppl"},{"key":"2022011317374567500_ref9","first-page":"3562719","article-title":"SLC9A3 affects vas deferens development and associates with Taiwanese congenital bilateral absence of the vas deferens","volume":"2019","author":"Wu","year":"2019","journal-title":"Biomed Res Int"},{"key":"2022011317374567500_ref10","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006715","article-title":"Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice","volume":"13","author":"Wang","year":"2017","journal-title":"PLoS Genet"},{"key":"2022011317374567500_ref11","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/s00439-020-02122-w","article-title":"Genetics of the congenital absence of the vas deferens","volume":"140","author":"Bieth","year":"2020","journal-title":"Hum 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