• PMID: 9026991
• Gene Name: CFTR
• Condition: congenital bilateral aplasia of vas deferens (CBAVD)
• Association: Genomic DNA from six individuals was analysed for the 9 mutations and from two patients for the 20 most common CF mutations in European population. In 3 patients, the mutation identified was delF508 and in 3 patients was found to have the R117H mutation (
• Population size: 8
• Population details: 8 patients with CBAVD
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: congenital bilateral aplasia of vas deferens (CBAVD)

[An analysis of the mutations in the gene of the mucoviscidosis transmembrane regulator protein (MTRP) in patients with congenital bilateral aplasia of the vas deferens]

Gusak NM, Gorovenko NG, Gorpinchenko II, Karmeliuk SO.

The genetic background of congenital bilateral aplasia of vas deferens (CBAVD) was studied. Eight patients from Ukraine were enrolled in our study. In each case, the clinical diagnosis of CBAVD was confirmed by testicular biopsy. None of patients had other clinical features of CF except high level of sweet Cl. Individuals underwent genetic screening for mutations in CFTR gene. Genomic DNA from six individuals was analysed for the 9 mutations and from two patients for the 20 most common CF mutations in European population. In 3 patients, the mutation identified was delF508 and in 3 patients was found to have the R117H mutation (in all cases one mutation per individual only). Our results confirmed hypothesis that isolated CBAVD is incomplete (genital) form of cystic fibrosis. FAU - Gusak, N M AU - Gusak NM FAU - Gorovenko, N G AU - Gorovenko NG FAU - Gorpinchenko, I I AU - Gorpinchenko II