ABCMdb

PMID: 9736775

Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T
Testicular CFTR splice variants in patients with congenital absence of the vas deferens.
Hum Mol Genet. 1998 Oct;7(11):1739-43., [PubMed]

Sentences

No. Mutations Sentence Comment

18 ABCC7 p.Arg117His ABCC7 p.Gly542* ABCC7 p.Asp1270Asn ABCC7 p.Leu206Trp ABCC7 p.Val232Asp ABCC7 p.Val232Asp RESULTS CFTR analysis Eight different mutations (R117H, L206W, V232D, ∆F508, G542X, 711+1G→T, D1270N and 2789+5G→A) were found in nine of the 12 CBAVD patients, yielding a CFTR mutation frequencyof75%.ThreepatientspresentedtwoCFTRmutations, with one of them homozygous for the V232D mutation. Login to comment 22 ABCC7 p.Arg334Trp In the control group (azoospermic subjects without the CBAVD phenotype), one mutation (R334W) was identified among the six patients (Table 1). Login to comment 26 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Asp1270Asn ABCC7 p.Leu206Trp ABCC7 p.Val232Asp ABCC7 p.Val232Asp CFTR genotype, IVS8-6 poly(T) allele and proportion of exon 9+ (E9+) and exon 9- (E9-) CFTR transcripts in testicular and epididymal biopsies Sample Phenotype CF mutation IVS8-6(T) Testis Epididymis n E9+ (%) E9- (%) n E9+ (%) E9- (%) 1 Non-CBAVD N/N 9T/9T 5 99 ± 0 1 ± 0 2 Non-CBAVD N/N 7T/7T 2 96 ± 2 4 ± 2 3 Non-CBAVD N/N 7T/7T 3 98 ± 0 2 ± 0 4 Non-CBAVD N/N 7T/7T 3 97 ± 1.5 3 ± 1.5 5 Non-CBAVD R334W/N 7T/7T 3 94 ± 1 6 ± 1 6 Non-CBAVD N/N 7T/7T 2 95 ± 1 5 ± 1 7 CBAVD V232D/V232D 9T/9T 4 96 ± 1.5 4 ± 1.5 8 CBAVD ∆F508/N 9T/9T 2 99 ± 0 1 ± 0 9 CBAVD ∆F508/D1270N 7T/9T 2 98 ± 1 2 ± 1 10 CBAVD G542X/2789+5G→A 7T/9T 2 96 ± 1 4 ± 1 11 CBAVD N/N 7T/7T 3 96 ± 2 4 ± 2 2 90 ± 3 10 ± 3 12 CBAVD N/N 7T/7T 2 94 ± 2 6 ± 2 5 78 ± 5 22 ± 5 13 CBAVD R117H/N 7T/7T 2 99 ± 0 1 ± 0 4 95 ± 2 5 ± 2 14 CBAVD G542X/5T 5T/9T 3 30 ± 2 70 ± 2 15 CBAVD ∆F508/5T 5T/9T 2 80 ± 5 20 ± 5 16 CBAVD L206W/5T 5T/9T 2 58 ± 2 42 ± 2 17 CBAVD 711+1G→T/5T 5T/7T 3 77 ± 4 23 ± 4 18 CBAVD 5T/N 5T/7T 5 71 ± 2 29 ± 2 The mean proportion of E9+ and E9- CFTR transcripts is calculated as the mean of the proportions found for each sample. Login to comment 57 ABCC7 p.Arg334Trp The case of the R334W mutation in the azoospermic control group (1/6) with a defect in the spermatogenic process is in agreement with a previous report and further supports the involvement of CFTR in some cases of non-CBAVD azoospermia. Login to comment 79 ABCC7 p.Asp1270Asn (A and B) Patient 9 with genotype ∆F508/D1270N; (C and D) patient 17 with genotype 711+1G→T/5T. Login to comment 112 ABCC7 p.Gly542* Each sample of genomic DNA was first studied for the most common CF mutations in the Spanish population, ∆F508 and G542X. Login to comment