{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T03:37:00Z","timestamp":1778211420388,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017700","name":"Henan Provincial Science and Technology Research Project","doi-asserted-by":"publisher","award":["222102310047"],"award-info":[{"award-number":["222102310047"]}],"id":[{"id":"10.13039\/501100017700","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (<jats:italic>CFTR<\/jats:italic>) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, whole\u2010exome sequencing and cosegregation analysis were performed in a Chinese pedigree involving two siblings with CBAVD. Moreover, in\u00a0vitro gene expressions were used to analyze the pathogenicity of a novel <jats:italic>CFTR<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified compound heterozygous mutations of <jats:italic>CFTR<\/jats:italic> comprising the known disease\u2010causing variant c.1210\u201011T&gt;G (also known as IVS9\u20105\u2009T) and c.2144delA;p.q715fs in two siblings with CBAVD. To verify the effects in\u00a0vitro, we transfected vectors expressing wild\u2010type and mutated <jats:italic>CFTR<\/jats:italic> into 293T cells. The results showed that the CFTR protein containing the frameshift mutation (c.2144delA) was 60 kD smaller. With testicular sperm aspiration\/intracytoplasmic sperm injection\u2010embryo transfer (TESA\/ICSI\u2010ET), both CBAVD patients fathered healthy offspring.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study revealed that compound heterozygous mutations of <jats:italic>CFTR<\/jats:italic> are involved in CBAVD, expanding the known <jats:italic>CFTR<\/jats:italic> gene mutation spectrum of CBAVD patients and providing more evidence that compound heterozygous mutations can cause familial CBAVD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2364","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T15:14:43Z","timestamp":1705590883000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Compound heterozygous mutations in <i>CFTR<\/i> causing congenital bilateral absence of the vas deferens in a Chinese 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