ABCMdb

PMID: 22390181

Grzegorczyk V, Rives N, Sibert L, Dominique S, Mace B
Management of male infertility due to congenital bilateral absence of vas deferens should not ignore the diagnosis of cystic fibrosis.
Andrologia. 2012 Oct;44(5):358-62. doi: 10.1111/j.1439-0272.2012.01288.x. Epub 2012 Mar 6., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Ala455Glu CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. Pneumological evaluation revealed a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Login to comment 29 ABCC7 p.Ala455Glu CFTR molecular testing detected two mutations, F508del and A455E (Pr. C. Ferec, Brest University Hospital) corresponding to a CF genotype. Pneumological evaluation confirmed the diagnosis of CF with a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Login to comment 48 ABCC7 p.Arg117His ABCC7 p.Arg117His The most common mutation in patients with CBAVD are the main CF-associated defect F508del (21-40%), the T5 variant of the polypyrimidin tract of the intron eight (19-37%) which pathogenicity depends on the adjacent TG-repeat, and R117H (3-14%) and the most frequent genotype is F508del/R117H (40%) (De Braekeleer & Fe´rec, 1996; Je´ze´quel et al., 2000; Ratbi et al., 2007). Login to comment 49 ABCC7 p.Ala455Glu ABCC7 p.Leu206Trp ABCC7 p.Asp1152His Some genotypes had been described in patients with moderate or late CF, such as those with F508del/L206W, F508del/D1152H, F508del/A455E like in our patient. Login to comment 51 ABCC7 p.Ala455Glu A455E mutation is a missense mutation and belongs to class V mutation. Login to comment 54 ABCC7 p.Ala455Glu A relationship has been described between the A455E mutation and milder lung disease in patients with CF. Login to comment 55 ABCC7 p.Ala455Glu Patients with the A455E mutation had significantly better lung function and less pancreatic insufficiency than the F508del homozygotes (Gan et al., 1995) and are generally diagnosed at older age than matched F508del homozygotes. Login to comment 56 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Mild symptoms of CF are most likely associated with the presence of A455E mutation because all of the A455E compound heterozygotes had a severe mutation in the second allele like our proband (Gan et al., 1995). Login to comment 57 ABCC7 p.Ala455Glu These data were confirmed by De Braekeleer et al. (1997) who showed that pulmonary problems were the leading clinical feature at diagnosis with a mean sweat chloride concentration lower among the A455E heterozygotes. Login to comment 58 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Moreover, a lower mortality rate was also reported in patients with F508del/ A455E than in F508del homozygotes (9.1% vs 21.2%) confirming the evidence that the A455E mutation is associated with a milder form of CF and a better prognosis. Login to comment