• PMID: 22103471
• Gene Name: CFTR
• Condition: Congenital bilateral absence of the vas deferens (CBAVD), idiopathic obstructive azoospermia
• Association: The p.F508del, p.G85E, p.D1152H, and p.W1089X mutations were found in 3 CBAVD patients (18.8%). None of the 9 CFTR mutations screened for in idiopathic azoospermic were found; however, we documented a high frequency of the Gln1463Gln polymorphism in compa
• Mutation: IVS8-Tn(TG)m polymorphisms, p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H
• Population size: 49
• Population details: 49 (16 CBAVD, 33 idiopathic azoospermic cases)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Congenital bilateral absence of the vas deferens (CBAVD), idiopathic obstructive azoospermia

Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens

Saldaña-Alvarez Y, Jiménez-Morales S, Echevarría-Sánchez M, Jiménez-Ruíz JL, García-Cavazos R, Velázquez-Cruz R, Carnevale A, Orozco L.

BACKGROUND: In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases. However, the involvement of these mutations in infertility of Mexican males has not been elucidated. AIMS: We investigated whether CFTR mutations and IVS8-Tn(TG)m polymorphisms are associated with infertility in azoospermic Mexican patients. METHODS: Sixteen CBAVD and 33 idiopathic azoospermic cases were included. The CFTR gene was sequenced in all CBAVD cases. In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened. RESULTS: The p.F508del, p.G85E, p.D1152H, and p.W1089X mutations were found in 3 CBAVD patients (18.8%). None of the 9 CFTR mutations screened for in idiopathic azoospermic were found; however, we documented a high frequency of the Gln1463Gln polymorphism in comparison with healthy controls (20% vs 6%; p=0.0029). CONCLUSIONS: These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. Nevertheless, other screening strategies should be used to rule out the implication of CFTR mutations in idiopathic azoospermic disease. FAU - Saldaña-Alvarez, Yolanda AU - Saldaña-Alvarez Y AD - Genomic of Complex Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, Mexico City, Mexico. FAU - Jiménez-Morales, Silvia AU - Jiménez-Morales S FAU - Echevarría-Sánchez, Mirna AU - Echevarría-Sánchez M FAU - Jiménez-Ruíz, Juan Luis AU - Jiménez-Ruíz JL FAU - García-Cavazos, Ricardo AU - García-Cavazos R FAU - Velázquez-Cruz, Rafael AU - Velázquez-Cruz R FAU - Carnevale, Alessandra AU - Carnevale A