Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

Abstract

The present study was undertaken to evaluate the frequency and nature of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in infertile patients undergoing intracytoplasmic sperm injection. A total of 90 patients were screened for a panel of 10 mutations in the CFTR gene frequently involved in congenital absence of the vas deferens (CAVD); the patients included 14 with azoospermia and CAVD, 39 patients with azoospermia without CAVD (n ⍧ 39) and 37 patients with severe oligozoospermia. The length of the polymorphic polypyrimidine tract (allele 5T, 7T and 9T) in the intron 8/exon 9 splice-acceptor site was also determined. In 10 out of 14 patients with CAVD, CFTR mutations were found; nine patients had one ∆ ∆F508 mutation and one patient had two CFTR mutations (N1303K/R117H). Allele 5T was present in eight of these patients. In six patients, 5T was the non-∆ ∆F508 allele and in two patients there was no known CFTR mutation. None of the CFTR mutations were observed in patients with azoospermia without CAVD or with severe oligozoospermia and the frequency of allele 5T was 3.6% (three out of 78 alleles) and 1.35% (one out of 74 alleles) respectively. Our observation suggests that the CFTR gene is not involved in either spermatogenesis or in the pathology of the genital tract, except for CAVD.

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques

“…Our study is consistent with studies that have been previously reported [9][10][11][12][13] and is not consistent with some of previous studies [28].These differences may be due to the clinical criteria applied when selecting the patients, race and sample size of patients.…”

Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases

“…Diagnosis of CBAVD was achieved based on these criteria: [11] the presence of normal to slightly smaller testicles, non-palpable vas deferens, normal plasma levels of FSH (follicle-stimulating hormone), and reduced ejaculate volume (< 1 mL).…”

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

“…Intracytoplasmic sperm injection is an effective therapeutic intervention used worldwide to assist conception but the risks of transmitting damaged genes most commonly found in obstructive azoospermia, particularly mutations of CFTR gene (10), to the offspring are of major concern (11, 12). During genetic counseling before ICSI, the couple was given explanations concerning the high risk of CF for the children if both p.F508del and p.P841R were inherited, respectively, from their mother and father, and the risk of CBAVD if p.[R74W;V201M;D1270N] and p.F508del were inherited.…”