• PMID: 25898554
• Gene Name: CFTR
• Condition: Congenital unilateral absence of the vas deferens (CUAVD)
• Association: Mutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.
• Mutation: c. 592G > C in exon 6, c. 1210-12T[5] was observed in the noncoding region before exon 10, V470 haplotype in exon 11
• Population size: 6
• Population details: 6 azoospermia patients with CUAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital unilateral absence of the vas deferens (CUAVD)

[Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens]

Yang XJ, Yuan P, Wu X, Zhang H, He QQ, Zhang Y.

OBJECTIVE: To discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens (CUAVD). METHODS: We collected peripheral blood samples from 6 azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly. RESULTS: Missense mutation of c. 592G > C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients, both with the V470 haplotype in exon 11. CONCLUSION: Mutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients. FAU - Yang, Xiao-jian AU - Yang XJ FAU - Yuan, Ping AU - Yuan P FAU - Wu, Xiao AU - Wu X FAU - Zhang, Hao AU - Zhang H FAU - He, Qing-qing AU - He QQ