CFTR mutations and polymorphisms in male infertility

International Journal of Andrology
H Cuppens, J J Cassiman

Abstract

Apart from cystic fibrosis, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are also involved in congenital bilateral absence of the vas deferens (CBAVD). A mutation is identified in about 80% of the CFTR genes derived from CBAVD patients; the genetic defect in the remainder is yet unknown. In contrast to CF patients, when CFTR is involved, at least one of the mutant CFTR genes of CBAVD patients harbors a mild mutation. A polyvariant mutant CFTR gene is the most frequent CBAVD causing mutant CFTR gene. Here, combinations of particular alleles at several polymorphic loci yield insufficient functional CFTR. The fact that most CBAVD patients, that carry mutations on both CFTR genes, have no lung disease is most probably explained by tissue specific alternative splicing, which is increased in vas deferens compared to bronchial tissue. It has also been reported that CBAVD may be involved in other forms of infertility than CBAVD, however this has not always been confirmed in other studies. Because of techniques such as intracytoplasmic sperm injection, CBAVD patients are now able to father children, however such couples have an increased risk of having a child with cystic fibrosis, and therefore genet...Continue Reading

References

Aug 11, 1995·Science·M J StuttsR C Boucher
Jun 1, 1995·The New England Journal of Medicine·M ChillónM Claustres
Mar 1, 1996·Human Reproduction·K van der VenC Ober

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Citations

Jul 23, 2013·European Journal of Obstetrics, Gynecology, and Reproductive Biology·I LandaburuJ-A Castilla
Jun 17, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·C BombieriC Ferec
Jul 13, 2006·Nature Reviews. Genetics·Dagmar Wilhelm, Peter Koopman
Apr 26, 2006·European Journal of Human Genetics : EJHG·Sirpa SoiniUNKNOWN ESHRE
Jun 20, 2012·Human Reproduction Update·Hui ChenHsiao Chang Chan
Dec 19, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Viktoria HavasiAnja Kammesheidt
Jul 1, 2011·Indian Journal of Urology : IJU : Journal of the Urological Society of India·Rubina MerchantGautam N Allahbadia
Oct 25, 2011·Annual Review of Pathology·Mitchell L DrummPamela B Davis
Jun 20, 2012·The Journal of Physiology·Ye Chun RuanSylvie Breton
Nov 19, 2008·The Journal of Physiology·Hsiao Chang ChanZhen Zhou
Nov 21, 2015·Asian Journal of Andrology·Sylvie BretonBongki Kim
Jan 18, 2006·Molecular and Cellular Endocrinology·Hsiao Chang ChanYu Ying Yuan
Jun 18, 2011·Clinical Chemistry and Laboratory Medicine : CCLM·Rossella TomaiuoloCarlo Alviggi
Nov 10, 2009·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Luigi PicciMaurizio Scarpa
Oct 25, 2011·The Journal of Molecular Diagnostics : JMD·Felice AmatoRossella Tomaiuolo
Jul 31, 2007·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Reza AlibakhshiHarry Cuppens
Jan 27, 2010·Fertility and Sterility·Viktoria HavasiEric J Sorscher
Apr 20, 2007·Biology of Reproduction·Travis M HagedornBruce D Schultz
Nov 8, 2014·Biology of Reproduction·Julie Dufresne, Daniel G Cyr
Mar 16, 2018·Expert Review of Molecular Diagnostics·Csilla KrauszAntoni Riera-Escamilla
Dec 7, 2007·The Journal of Biological Chemistry·Christine PietrementSylvie Breton
Nov 23, 2018·Cells·Michael Mederos Y SchnitzlerUrsula Storch
Feb 23, 2013·Current Opinion in Obstetrics & Gynecology·Asima AhmadPasquale Patrizio
Jan 7, 2011·Systems Biology in Reproductive Medicine·Douglas T Carrell, Kenneth I Aston
May 1, 2014·Spermatogenesis·Mary Gregory, Daniel G Cyr
May 6, 2020·International Journal of Molecular Sciences·Margarida D AmaralInes Pankonien

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