ABCMdb

PMID: 22340520

Schwarzer JU, Schwarz M
Significance of CFTR gene mutations in patients with congenital aplasia of vas deferens with special regard to renal aplasia.
Andrologia. 2012 Oct;44(5):305-7. doi: 10.1111/j.1439-0272.2012.01281.x. Epub 2012 Feb 17., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Arg117His DF508, the most common CFTR mutation worldwide, was detected in 61 patients, and the R117H missense mutation and the splice variant IVS8-5T were found in 22 patients each. Login to comment 26 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Leu1388Gln The 3272-26A>G mutation was detected in two related patients with CBAVD, and L1388Q, W1282X and G551D in one patient each. Login to comment 29 ABCC7 p.Arg117His Two mutations were found in 42 patients; the most frequently detected genotype was the compound heterozygous combination DF508/R117H in 17 patients with CBAVD (40%), followed by DF508/IVS8-5T in 13 patients (31%). Login to comment 30 ABCC7 p.Arg117His In the heterozygous condition (n = 37 patients), DF508 mutation (21 patients, 57%) was followed by the IVS8-5T splice variant (six patients, 16%) and R117H mutation (six patients, 16%) (Table 2). Login to comment 45 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Leu1388Gln Table 1 Frequency of CFTR mutations detected in 110 patients with CBAVD Mutation: DF508 R117H IVS8-5T 3272-26A>G L1388Q W1282X G551D Patients with CBAVD 61 (55)a 22 (22) 22 (22) 2 (2) 1 (1) 1 (1) 1 (1) a Percentages in brackets refer to total number of patients with CBAVD (110). Login to comment 46 ABCC7 p.Arg117His ABCC7 p.Arg117His Table 2 Frequency of genotypes detected in patients with CBAVD DF508/R117H DF508/IVS8-5T Others DF508 IVS8-5T R117H Others 17 patients with CBAVD (40)a 13 patients with CBAVD (31) 12 patients with CBAVD (29) 21 patients with CBAVD (57) 6 patients with CBAVD (16) 6 patients with CBAVD (16) 4 patients with CBAVD (11) a Percentages in brackets refer to genotypes with two mutations (n = 42) or one mutation (n = 37) detected. Login to comment