Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia

Andrologia

Volumn 44, Issue 5, 2012, Pages 305-307

  Schwarzer, J U ^a   Schwarz, M ^a  

^a Center of Andrology Munich Germany   (Germany)

Author keywords

Aplasia; CBAVD; Cystic fibrosis; Kidney; Vas deferens

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; APLASIA; ARTICLE; AZOOSPERMIA; CONTROLLED STUDY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY AGENESIS; MAJOR CLINICAL STUDY; MALE; VAS DEFERENS; VAS DEFERENS CONGENITAL APLASIA;

ADULT; AZOOSPERMIA; CONGENITAL ABNORMALITIES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS; KIDNEY; KIDNEY DISEASES; MALE; MALE UROGENITAL DISEASES; MUTATION; SPERM INJECTIONS, INTRACYTOPLASMIC; VAS DEFERENS;

EID: 84865750285     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/j.1439-0272.2012.01281.x     Document Type: Article

References (12)

1. Attardo T, Vicari E, Mollica F, Grazioso C, Burrello N, Garofalo MR, Lizzio MN, Garigali G, Cannizaro M, Ruvolos G, Dágata R, Calogero AE (2001) Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. Int J Androl 24:73-79.
2. Casals T, Bassas L, Egozcue S, Ramos MD, Gimènez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X (2000) Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 15:1476-1483.
3. Costes B, Girodon E, Ghanem N, Floris E, Jardin A, Soufir JC, Goossens (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 3:285-293.
4. Havasi V, Rowe SM, Kolettis PN, Dayangac D, Sahin A, Grangeia A, Carvalho F, Barros A, Sousa M, Bassas L, Casals T, Sorscher EJ (2010) Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. Fertil Steril 94:2122-2127.
5. Hussein TM, Zakaria NH, Zahran AM (2011) Clinical, laboratory and genetic assessment of patients with congenital bilateral absent vas deferens. Andrologia 43:16-22.
6. Mickle J, Milunsky A, Amos JA, Oates RD (1995) 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 10:1728-1735.
7. Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodeon E (2007) Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 22:1285-1291.
8. Samli H, Samli MM, Yilmaz E, Imirzalioglu N (2006) Clinical, andrological and genetic characteristics of patients with congenital bilateral absence of vas deferens (CBAVD). Arch Androl 52:471-477.
9. Schwarzer JU, Fiedler K, Hertwig I, Krüsmann G, Würfel W, Mühlen B, Pickl U, Löchner-Ernst D, Schleyer M, Ovens-Raeder A, Hennig M (2003) Male factors determining the outcome of intracytoplasmic sperm injection with epididymal and testicular spermatozoa. Andrologia 35:220-226.
10. Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A (2002) Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with bilateral absence of the vas deferens. Hum Reprod 19:2066-2072.
11. Young D (1949) Bilateral aplasia of the vas deferens. Br J Surg 36:417-424.
12. Zielenski J, Tsui LC (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 29:777-807.