Fertility and Sterility
Volume 90, Issue 5 , Pages 2004.e23-2004.e26 , November 2008

Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene

  • Florence Brugnon, M.D.

      Affiliations

    • CHU Clermont-Ferrand, Biologie du Développement et de la Reproduction, CECOS, Hôtel Dieu, Clermont Ferrand, France
    • Corresponding Author InformationReprint requests: Florence Brugnon, M.D., CHU Clermont-Ferrand, Biologie du Développement et de la Reproduction, CECOS, Hôtel Dieu, F -63058 Clermont Ferrand Cedex1, France (FAX: 33-4-73-75-02-19).
    • ,
  • Frederic Bilan, Ph.D.

      Affiliations

    • CHU Poitiers, Laboratoire de Génétique Cellulaire et Moléculaire, Université de Poitiers, UFR Médecine-Pharmacie, Poitiers, France
    • ,
  • Marie-Christine Heraud, M.D.

      Affiliations

    • CHU Clermont Ferrand, Pédiatrie A, Hôtel Dieu, Faculté de Médecine, Clermont Ferrand, France
    • ,
  • Genevieve Grizard, Ph.D.

      Affiliations

    • CHU Clermont-Ferrand, Biologie du Développement et de la Reproduction, CECOS, Hôtel Dieu, Clermont Ferrand, France
    • ,
  • Laurent Janny, M.D.

      Affiliations

    • CHU Clermont-Ferrand, Biologie du Développement et de la Reproduction, CECOS, Hôtel Dieu, Clermont Ferrand, France
    • ,
  • Isabelle Creveaux, M.D., Ph.D

      Affiliations

    • CHU Clermont Ferrand, Laboratoire de biochimie médicale et biologie moléculaire, Faculté de Médecine, Clermont Ferrand, France

Received 6 February 2008 ,Revised 5 May 2008 ,Accepted 15 May 2008.

References 

  1. Tournaye H, Merdad T, Silber S, Joris H, Verheyen G, Devroey P, et al. No differences in outcome after intracytoplasmic sperm injection with fresh or with frozen-thawed epididymal spermatozoa. Hum Reprod. 1999;14:90–95
  2. Claustres M. Symposium: Genetic aspects of male (in)fertility: molecular pathology of the CFTR locus in male infertility. RBMonline. 2005;10:14–41
  3. Claustres M, Altierei JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Are p.II48T, p.R74W and p.D1270N cystic fibrosis causing mutations?. BMC Med Genet. 2004;5:19–24
  4. World Health Organization . Laboratory manual for the examination of human semen and semen–cervical mucus interaction. 4th ed.. Cambridge: Cambridge University Press; 1999;
  5. Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, et al. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet. 1993;2:51–54
  6. Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, et al. Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med. 2002;4:319–323
  7. Casals T, Bassas L, Egozcue S, Ramos MD, Gimenez J, Segura A, et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod. 2000;15:1476–1483
  8. Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, et al. Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. FEBS. 1999;452:371–374
  9. Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet. 1995;95:205–211
  10. Boucher D, Creveaux I, Grizard G, Jimenez C, Hermabessiere J, Dastugue B. Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme. Hum Reprod. 1999;5:587–593
  11. Cruger DG, Agaerholm I, Byriel L, Fedder J, Bruun-Petersen G. Genetic analysis of males from intracytoplasmic sperm injection couples. Clin Genet. 2003;64:198–203
  12. Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J. Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril. 2006;85:135–138
  13. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004;363:1633–1641

 F.B. has nothing to disclose. F.B. has nothing to disclose. M.-C.H. has nothing to disclose. G.G. has nothing to disclose. L.J. has nothing to disclose. I.C. has nothing to disclose.

PII: S0015-0282(08)01166-7

doi: 10.1016/j.fertnstert.2008.05.057

Fertility and Sterility
Volume 90, Issue 5 , Pages 2004.e23-2004.e26 , November 2008

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