ABCMdb

PMID: 8869353

Alton EW
A mild variant of cystic fibrosis.
Thorax. 1996 Aug;51 Suppl 2:S51-4., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCC7 p.Gly542* Examples include G542X, a mutation with a frequency of around 3% worldwide. Login to comment 49 ABCC7 p.Gly551Asp An example of this type of mutation is G551D with a worldwide frequency of approximately 3%. Login to comment 59 ABCC7 p.Arg117His In contrast "milder" mutations such as R117H (class 4) are generally associated with pancreatic sufficiency. Login to comment 80 ABCC7 p.Ala455Glu Novel findings of the paper by Gan et al The key finding of the paper by Gan et all is the identification of a mutation, A455E, that does appear to correlate with better lung prognosis. Login to comment 82 ABCC7 p.Ala455Glu Lung function was significantly higher in age and sex matched patients than in AF508 homozygotes, fewer patients were colonised with Pseudomonas, and disease was diagnosed at a later age in the subjects with A455E mutation. Login to comment 92 ABCC7 p.Ala455Glu Secondly, from a mechanistic point of view it will be important to understand why the A455E mutation differs from others in predicting a favourable outcome. Login to comment 95 ABCC7 p.Ala455Glu One final consideration relates to the level of chloride secretion present in patients with the A455E mutation, which has been shown to allow residual secretion of chloride. Login to comment 100 ABCC7 p.Ala455Glu A455E may produce a small increase in function above a critical level, resulting, in turn, in a disproportionately large increase in function sufficient to influence lung disease. Login to comment 101 ABCC7 p.Ala455Glu Finally, it is worth noting that, given the relative rarity of some mutations, A455E may not turn out to be the only mutation associated with an improved respiratory prognosis. Login to comment