ABCMdb

PMID: 22081250

Yu J, Chen Z, Ni Y, Li Z
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis.
Hum Reprod. 2012 Jan;27(1):25-35. Epub 2011 Nov 10., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Arg117His ABCC7 p.Arg117His Moreover, the common heterozygous F508del/5T and F508del/R117H were observed in 17 and 4% of CBAVD cases respectively, and the allele frequency in CBAVD was 17% for F508del, 25% for 5T and 3% for R117H. Login to comment 24 ABCC7 p.Arg117His In particular, several large studies that extensively screened CFTR mutations in CBAVD demonstrated that the most common mutations are F508del, 5T (c.1210-12T[5]) and R117H (c.350G . Login to comment 31 ABCC7 p.Arg117His Generally speaking, F508del/5T and F508del/ R117H are the two most common kinds of compound heterozygote, in men with CBAVD, which clearly differs from those observed in typical CF (De Braekeleer and Ferec, 1996; Claustres et al., 2000; Claustres, 2005). Login to comment 89 ABCC7 p.Arg117His Summary analysis demonstrated that two common heterozygous genotypes, F508del/5T and F508del/R117H, were observed in CBAVD cases with frequency of 17 and 4%, respectively (Figs 3 and 4). Login to comment 90 ABCC7 p.Arg117His As for the frequent mutant alleles, the frequency was 17% for F508del, 25% for 5T and 3% for R117H, respectively (Figs 5-7). Login to comment 97 ABCC7 p.Arg117His However, the frequency of cases with two mutations was higher in Figure 4 Forest plot for meta-analysis of F508del/R117H frequency in CBAVD patients. For details see Fig. 2. Login to comment 109 ABCC7 p.Arg117His The results demonstrate a high frequency of overall CFTR mutations, as well as heterozygous genotype F508delt/5T and F508del/R117H, in CBAVD patients and indicate a potential association of CFTR mutations with CBAVD. Login to comment 114 ABCC7 p.Arg117His Figure 7 Forest plot for meta-analysis of R117H frequency in CBAVD patients. For details see Fig. 2. results are consistent with the assumption that severe mutations such as F508del would result in typical CF while the mild variant 5T might be responsible for atypical CF symptoms such as CBAVD (Cuppens and Cassiman, 2004; Claustres, 2005). Login to comment