Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens

International Journal of Urology

Volumn 15, Issue 3, 2008, Pages 270-271

  Sakamoto, Hideo ^a   Yajima, Takatoshi ^a   Suzuki, Kohta ^a   Ogawa, Yoshio ^a  

^a SHOWA UNIVERSITY   (Japan)

Author keywords

Congenital bilateral absence of vas deferens; Cystic fibrosis transmembrane conductance regulator; Infertility

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGENESIS; ARTICLE; AZOOSPERMIA; CASE REPORT; DISEASE ASSOCIATION; DYSPLASIA; ECHOGRAPHY; EPIDIDYMIS; GENE MUTATION; HORMONE BLOOD LEVEL; HUMAN; INFERTILITY; KIDNEY MALFORMATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SEMEN ANALYSIS; TRANSRECTAL ULTRASONOGRAPHY; VAS DEFERENS;

ADULT; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; MALE; MUTATION; VAS DEFERENS;

EID: 39849106152     PISSN: 09198172     EISSN: 14422042     Source Type: Journal    
DOI: 10.1111/j.1442-2042.2007.01974.x     Document Type: Article

References (10)

1. Jarzabek K, Zbucka M, Pepiñski W et al. Cystic fibrosis as a cause of infertility. Reprod. Biol. 2004 4 : 119 29.
2. Anzai C, Morokawa N, Okada H, Kamidono S, Eto Y, Yoshimura K. CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. J. Cyst. Fibro. 2003 2 : 14 18.
3. Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum. Reprod. 2004 19 : 540 6.
4. Samli H, Samli MM, Yilmaz E, Imirzalioglu N. Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). Arch. Androl. 2006 52 : 471 7.
5. Jarvi K, McCallum S, Zielenski J et al. Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations. Fertil. Steril. 1998 70 : 724 8.
6. Casals T, Bassas L, Egozcue S et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum. Reprod. 2000 15 : 1476 83.
7. Ngiam NSP, Chong SS, Shek LPC et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. J. Cyst. Fibros. 2006 5 : 159 64.
8. Wu CC, Alper ÖM, Lu JF et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum. Reprod. 2005 20 : 2470 5.
9. de la Taille A, Rigot JM, Mahe P 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. 1998 81 : 614 19.
10. Chillün M, Casals T, Mercier B et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 1995 332 : 1475 80.