• PMID: 10200050
• Gene Name: CFTR
• Condition: Congenital absence of the vas deferens, obstructive azoospermia
• Association: Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified i
• PMID: 10200050
• Gene Name: CFTR
• Condition: CBAVD
• Association: Associated
• Mutation: CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A, DF508 + A1067T)
• Population size: 64
• Population details: 64 patients
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CFTR
• Other associated phenotypes: CBAVD

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M.

Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A). FAU - de Meeus, A AU - de Meeus A AD - Laboratoire de Biochimie Génétique, Institut de Biologie, Boulevard Henri IV, 34060, Montpellier, France. anne@xerxes.crbm.cnrs-mop.fr FAU - Guittard, C AU - Guittard C FAU - Desgeorges, M AU - Desgeorges M FAU - Carles, S AU - Carles S FAU - Demaille, J AU - Demaille J