Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens

Fertility and Sterility

Volumn 104, Issue 5, 2015, Pages 1268-1275.e2

  Yang, Xiaojian ^a   Sun, Qipeng ^a   Yuan, Ping ^a   Liang, Hao ^b,c   Wu, Xiao ^a   Lai, Luhua ^b,c   Zhang, Yan ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b PEKING UNIVERSITY   (China)

^c PEKING UNIVERSITY   (China)

Author keywords

CFTR; Congenital absence of vas deferens; mutation; variant

Indexed keywords

ADENOSINE TRIPHOSPHATE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOMIC DNA; CFTR PROTEIN, HUMAN;

ADULT; AGENESIS; ARTICLE; AZOOSPERMIA; BIOINFORMATICS; CASE CONTROL STUDY; CLINICAL ARTICLE; CONGENITAL ABSENCE OF VAS DEFERENS; DNA EXTRACTION; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MALE; MALE GENITAL SYSTEM DISEASE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TEACHING HOSPITAL; BIOLOGY; CHEMICAL STRUCTURE; CHEMISTRY; CHINA; CONGENITAL MALFORMATION; GENETIC DATABASE; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; MALE UROGENITAL DISEASES; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN CONFORMATION; STRUCTURE ACTIVITY RELATION; TERTIARY CARE CENTER; VAS DEFERENS;

ADULT; AZOOSPERMIA; CASE-CONTROL STUDIES; CHINA; COMPUTATIONAL BIOLOGY; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HOSPITALS, TEACHING; HUMANS; MALE; MALE UROGENITAL DISEASES; MODELS, MOLECULAR; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; STRUCTURE-ACTIVITY RELATIONSHIP; TERTIARY CARE CENTERS; VAS DEFERENS;

EID: 84946482918     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2015.07.1143     Document Type: Article

References (35)

1. R.E. Nelson Congenital absence of the vas deferens; a review of the literature and report of three cases J Urol 63 1950 176 182
2. L.V. Wagenknecht, C.F. Lotzin, H.J. Sommer, and C. Schirren Vas deferens aplasia: clinical and anatomical features of 90 cases Andrologia 15 Spec No 1983 605 613
3. W.H. Weiske, N. Salzler, I. Schroeder-Printzen, and W. Weidner Clinical findings in congenital absence of the vasa deferentia Andrologia 32 2000 13 18
4. H. Chen, Y.C. Ruan, W.M. Xu, J. Chen, and H.C. Chan Regulation of male fertility by CFTR and implications in male infertility Hum Reprod Update 18 2012 703 713
5. J.R. Riordan, J.M. Rommens, B. Kerem, N. Alon, R. Rozmahel, Z. Grzelczak, and et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1989 1066 1073
6. M. Chillon, T. Casals, B. Mercier, L. Bassas, W. Lissens, S. Silber, and et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens N Engl J Med 332 1995 1475 1480
7. A. Anguiano, R.D. Oates, J.A. Amos, M. Dean, B. Gerrard, C. Stewart, and et al. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis JAMA 267 1992 1794 1797
8. R. Giuliani, I. Antonucci, I. Torrente, P. Grammatico, G. Palka, and L. Stuppia Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols Asian J Androl 12 2010 819 826
9. H. Li, Q. Wen, H. Li, L. Zhao, X. Zhang, J. Wang, and et al. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens J Cyst Fibros 11 2012 316 323
10. J. Yu, Z. Chen, Y. Ni, and Z. Li CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis Hum Reprod 27 2012 25 35
11. Q. Du, Z. Li, Y. Pan, X. Liu, B. Pan, and B. Wu The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens Biomed Res Int 2014 2014 689185
12. S. Lu, X. Yang, Y. Cui, X. Li, H. Zhang, J. Liu, and et al. Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia Urology 82 2013 824 828
13. W. Ni, L. Jiang, Q. Fei, J. Jin, X. Yang, and X. Huang The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens Asain J Androl 14 2012 687 690
14. Q. Du, Y. Fang, Y. Pan, B. Pan, Y. Song, and B. Wu Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens Natl J Androl 18 2012 999 1003
15. P.N. Kolettis, and J.I. Sandlow Clinical and genetic features of patients with congenital unilateral absence of the vas deferens Urology 60 2002 1073 1076
16. J. Mickle, A. Milunsky, J.A. Amos, and R.D. Oates Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene Hum Reprod 10 1995 1728 1735
17. M. Daudin, E. Bieth, L. Bujan, G. Massat, F. Pontonnier, and R. Mieusset Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling Fertil Steril 74 2000 1164 1174
18. J.U. Schwarzer, and M. Schwarz Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia Andrologia 44 2012 305 307
19. T. Casals, L. Bassas, S. Egozcue, M.D. Ramos, J. Gimenez, A. Segura, and et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens Hum Reprod 15 2000 1476 1483
20. A. De La Taille, J.M. Rigot, P. Mahe, O. Vankemmel, R. Gervais, V. Dumur, and et al. Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens Br J Urol 81 1998 614 619
21. H.U. Pauer, B. Hinney, H.W. Michelmann, E.W. Krasemann, B. Zoll, and W. Engel Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection Hum Reprod 12 1997 1909 1912
22. V. Dumur, R. Gervais, J. Rigot, E. Delomel-Vinner, B. Decaestecker, J. Lafitte, and et al. Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): Correlation between genotype and phenotype Hum Genet 97 1996 7 10
23. F.O. Desmet, D. Hamroun, M. Lalande, G. Collod-Beroud, M. Claustres, and C. Beroud Human Splicing Finder: an online bioinformatics tool to predict splicing signals Nucleic Acids Res 37 2009 e67
24. A. Piserchio, A. Fellows, D.R. Madden, and D.F. Mierke Association of the cystic fibrosis transmembrane regulator with CAL: structural features and molecular dynamics Biochemistry 44 2005 16158 16166
25. R. Radpour, H. Gourabi, A.V. Dizaj, W. Holzgreve, and X.Y. Zhong Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility J Androl 29 2008 506 513
26. J. Cao, and G. Liu Congenital bilateral absence of vas deferens Chin J Urol 3 1985 134 136
27. P.N. Schlegel, D. Shin, and M. Goldstein Urogenital anomalies in men with congenital absence of the vas deferens J Urol 155 1996 1644 1648
28. T. McCallum, J. Milunsky, R. Munarriz, R. Carson, H. Sadeghi-Nejad, and R. Oates Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations Hum Reprod 16 2001 282 288
29. S.M. Rowe, S. Miller, and E.J. Sorscher Cystic fibrosis N Engl J Med 352 2005 1992 2001
30. P.M. Quinton Physiological basis of cystic fibrosis: a historical perspective Physiol Rev 79 1999 S3 22
31. M.J. Welsh, and A.E. Smith Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis Cell 73 1993 1251 1254
32. W.B. Guggino, and B.A. Stanton New insights into cystic fibrosis: molecular switches that regulate CFTR Nat Rev Mol Cell Biol 7 2006 426 436
33. H. Chiang, J. Lu, C. Liu, Y. Wu, and C. Wu CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis Clin Genet 76 2009 282 286
34. H. Cuppens, W. Lin, M. Jaspers, B. Costes, H. Teng, A. Vankeerberghen, and et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation J Clin Invest 101 1998 487 496
35. C.S. Chu, B.C. Trapnell, S. Curristin, G.R. Cutting, and R.G. Crystal Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA Nat Genet 3 1993 151 156