Open Access

Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)

  • Authors:
    • Xiangrong Cui
    • Xueqing Wu
    • Qiang Li
    • Xuan Jing
  • View Affiliations

  • Published online on: August 24, 2020     https://doi.org/10.3892/mmr.2020.11456
  • Pages: 3587-3596
  • Copyright: © Cui et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Congenital bilateral absence of the vas deferens (CBAVD) is predominantly caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CBAVD accounts for 2‑6% of male infertility cases and up to 25% of cases of obstructive azoospermia. With the use of pre‑implantation genetic diagnosis, testicular or epididymal sperm aspiration, intracytoplasmic sperm injection and in vitro fertilization, patients affected by CBAVD are able to have children who do not carry CFTR gene mutations, thereby preventing disease. Therefore, genetic counseling should be provided to couples receiving assisted reproductive techniques to discuss the impact of CFTR gene mutations on reproductive health. In the present article, the current literature concerning the CFTR gene and its association with CBAVD is reviewed.
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November-2020
Volume 22 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Cui X, Wu X, Li Q and Jing X: Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review). Mol Med Rep 22: 3587-3596, 2020.
APA
Cui, X., Wu, X., Li, Q., & Jing, X. (2020). Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review). Molecular Medicine Reports, 22, 3587-3596. https://doi.org/10.3892/mmr.2020.11456
MLA
Cui, X., Wu, X., Li, Q., Jing, X."Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)". Molecular Medicine Reports 22.5 (2020): 3587-3596.
Chicago
Cui, X., Wu, X., Li, Q., Jing, X."Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review)". Molecular Medicine Reports 22, no. 5 (2020): 3587-3596. https://doi.org/10.3892/mmr.2020.11456