• PMID: 10050655
• Gene Name: CFTR
• Condition: Congenital absence of the vas deferens, obstructive azoospermia
• Association: In 16 of the males without associated renal abnormalities only one deltaF508 carrier was identified, but an exceptionally high frequency of the IVS-5T variant was found (14 of 32 alleles or 43.7%), confirming that this variant is involved in many cases of
• Mutation: 8 5T splice variant, IVS-5T, deltaF508, 541 (L541P)
• Population size: 36
• Population details: 36 (20 CBAVD males, 16 of the males without associated renal abnormalities)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital absence of the vas deferens, obstructive azoospermia

Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens

Lissens W, Mahmoud KZ, El-Gindi E, Abdel-Sattar A, Seneca S, Van Steirteghem A, Liebaers I.

It has previously been shown that defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are largely responsible for the condition of congenital bilateral absence of the vas deferens (CBAVD), without associated renal abnormalities, in Caucasian populations. To assess the involvement of the CFTR in CBAVD in a population with presumed low cystic fibrosis (CF) frequency, we have analysed 20 CBAVD males from Egypt for the presence of 12 common Caucasian CFTR mutations and the intron 8 5T splice variant, IVS-5T, known to be a major cause of CBAVD in Caucasian patients. In 16 of the males without associated renal abnormalities only one deltaF508 carrier was identified, but an exceptionally high frequency of the IVS-5T variant was found (14 of 32 alleles or 43.7%), confirming that this variant is involved in many cases of CBAVD, even in populations where CF is rare. CFTR mutations or the IVS-5T variant were found neither in the remaining four patients with associated renal abnormalities nor in the spouses of the 20 CBAVD patients. However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. It is as yet not clear whether this change is involved in CBAVD in this male. FAU - Lissens, W AU - Lissens W AD - Center for Medical Genetics, University Hospital of the Dutch-speaking Brussels Free University, Belgium. lgenlsw@az.vub.ac.be FAU - Mahmoud, K Z AU - Mahmoud KZ FAU - El-Gindi, E AU - El-Gindi E FAU - Abdel-Sattar, A AU - Abdel-Sattar A FAU - Seneca, S AU - Seneca S FAU - Van Steirteghem, A AU - Van Steirteghem A