ABCMdb

PMID: 9328474

Mak V, Jarvi KA, Zielenski J, Durie P, Tsui LC
Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
Hum Mol Genet. 1997 Nov;6(12):2099-107., [PubMed]

Sentences

No. Mutations Sentence Comment

80 ABCC7 p.Arg117His For instance, the R117H mutation is associated with pancreatic-sufficient CF (CF-PS) (28). Login to comment 82 ABCC7 p.Arg117His ABCC7 p.Arg117His Not surprisingly, the mild R117H mutation has been identified in otherwise healthy males with CBAVD. Login to comment 83 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His However, further genetic analysis uncovered that individuals heterozygous for the R117H mutation on a 5T background (i.e., R117H and 5T on the same chromosome) and a 'severe` CFTR mutation (e.g., ∆F508, G551D) developed lung disease characteristic of CF, whereas the R117H mutation found in CBAVD men is associated exclusively with the more efficient splice acceptor 7T (i.e., R117H and 7T on the same chromosome) (23). Login to comment 84 ABCC7 p.Arg117His ABCC7 p.Arg117His It is also important to note that the R117H mutation gives rise to a partially functional CFTR protein (30). Login to comment 85 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Therefore, the R117H/5T allele results in a low enough level of partially functioning CFTR in the lung and an even lower level in the reproductive tract such that both organs are affected. Login to comment 86 ABCC7 p.Arg117His ABCC7 p.Arg117His In contrast, the R117H/7T allele, although producing a sufficient level of partially functional CFTR in the lung to prevent disease, the lower level in the genital ducts results in characteristic pathologic changes. Login to comment 87 ABCC7 p.Arg117His Therefore, the R117H/5T allele results in a low enough level of partially functioning CFTR in the lung and an even lower level in the reproductive tract such that both organs are affected. Login to comment 88 ABCC7 p.Arg117His In contrast, the R117H/7T allele, although producing a sufficient level of partially functional CFTR in the lung to prevent disease, the lower level in the genital ducts results in characteristic pathologic changes. Login to comment