Academic Journal
Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples.
| Τίτλος: | Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples. |
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| Συγγραφείς: | Yuan P; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Liang Z; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Zhou L; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China.; The Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China, gzhmc.edu.cn., Ji X; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Wang S; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Zhang J; The Reproductive Medicine Research Center, The Sixth Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn., Li J; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Xie S; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Li Y; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China., Yalikun T; IVF Center, The First People's Hospital of Kashi Prefecture, Kashi, China., Sun Q; Department of Organ Transplantation, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, China., Chen H; IVF Center, Department of Obstetrics and Gynecology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China, sysu.edu.cn.; Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases, Guangzhou, China. |
| Πηγή: | Human mutation [Hum Mutat] 2026 May 25; Vol. 2026, pp. 5588277. Date of Electronic Publication: 2026 May 25 (Print Publication: 2026). |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: New York : Wiley-Liss, c1992- |
| Ιατρικοί όροι (MeSH): | Cystic Fibrosis Transmembrane Conductance Regulator*/genetics , Male Urogenital Diseases*/genetics , Vas Deferens*/abnormalities , Vas Deferens*/abnormalities , Receptors, G-Protein-Coupled*/genetics , Mutation*, Infertility, Male/genetics ; East Asian People/genetics ; Adult ; Female ; Humans ; Male ; China ; Cohort Studies ; Cross-Sectional Studies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Risk Assessment |
| Περίληψη: | Congenital absence of the vas deferens (CAVD) is a major cause of obstructive azoospermia and male infertility, with its genetic etiology primarily associated with CFTR (autosomal recessive) and ADGRG2 (X-linked) mutations. However, the genetic spectrum and classification of variants in isolated congenital absence of the vas deferens (iCAVD), as well as the risk of CFTR variant carriage in affected couples, remain incompletely understood. In this cross-sectional study, we enrolled 199 Chinese iCAVD patients and 148 female partners between 2012 and 2024. CFTR and ADGRG2 variants were identified in 74.87% of iCAVD patients, with CFTR being the predominant pathogenic gene. Notably, 10.14% of couples carried shared pathogenic or likely pathogenic CFTR variants, highlighting the potential reproductive risks. The most common pathogenic variants were CFTR c.1210-12T (Yu et al., 2012) (5T) and c.4056G > C (p.Gln1352His), whereas c.1666A > G (p.Ile556Val) was classified as likely benign. The c.4056G > C variant exhibited significant regional ethnic characteristics. Furthermore, genotype-phenotype correlation analysis revealed significant differences in semen volume, pH, and fructose levels among different variant subgroups in CBAVD patients. Collectively, these findings provide a comprehensive overview of the genotype-phenotype landscape in a large iCAVD cohort, emphasizing variant classification and reproductive risks associated with CFTR and ADGRG2. This study offers valuable insights for genetic counseling and reproductive planning in affected couples. (Copyright © 2026 Ping Yuan et al. Human Mutation published by John Wiley & Sons Ltd.) |
| Competing Interests: | The authors declare no conflicts of interest. |
| Contributed Indexing: | Keywords: ADGRG2; CAVD; CFTR; carrier risk; genetic variants; genotype–phenotype correlation |
| Substance Nomenclature: | 0 (ADGRG2 protein, human) 0 (CFTR protein, human) 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) 0 (Receptors, G-Protein-Coupled) |
| SCR Disease Name: | Congenital bilateral aplasia of vas deferens |
| Entry Date(s): | Date Created: 20260527 Date Completed: 20260527 Latest Revision: 20260529 |
| Update Code: | 20260529 |
| PubMed Central ID: | PMC13199994 |
| DOI: | 10.1155/humu/5588277 |
| PMID: | 42199298 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1098-1004 |
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| DOI: | 10.1155/humu/5588277 |