• PMID: 23214250
• Gene Name: CFTR
• Condition: Congenital bilateral absence of vas deferens (CBAVD)
• Association: Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in theCystic Fibrosis Mutation Database.
• Mutation: 27 exons of the CFTR
• Population size: 9
• Population details: 9 patients with CBAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of vas deferens (CBAVD)

[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]

Du Q, Fang YY, Pan YF, Pan BC, Song YS, Wu B.

OBJECTIVE: To assess the necessity of detecting the gene of cystic fibrosis transmembrane conductance regulator factor (CFTR) in Chinese men with congenital bilateral absence of the vas deferens (CBAVD). METHODS: We detected the mutation of all the 27 exons of the CFTR gene in 9 patients with CBAVD by DNA sequencing, and compared the results using NCBI and Cystic Fibrosis Mutation Database. RESULTS: Four novel missense mutations/variants were found in the CFTR gene of the CBAVD patients, which were submitted and accepted in the Cystic Fibrosis Mutation Database. CONCLUSION: There are mutations or variants in the CFTR gene in Chinese men with CBAVD, and the mutational distribution is different from that in Westerners. FAU - Du, Qiang AU - Du Q AD - Department of Reproduction, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, China. FAU - Fang, Yuan-Yuan AU - Fang YY FAU - Pan, Yong-Feng AU - Pan YF FAU - Pan, Bo-Chen AU - Pan BC FAU - Song, Yong-Sheng AU - Song YS