ABCMdb

PMID: 11069835

Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, Simon RH, Silverman LM, Knowles MR
Lung disease associated with the IVS8 5T allele of the CFTR gene.
Am J Respir Crit Care Med. 2000 Nov;162(5):1919-24., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Arg117His The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H. Login to comment 13 ABCC7 p.Arg117His Previously, the 5T and 7T alleles have been described as polymorphisms responsible for the variable expression of the mild CFTR gene mutation R117H. Login to comment 14 ABCC7 p.Arg117His For example, an R117H- bearing allele in cis with a 7T allele may result in CBAVD, whereas when associated with the 5T allele, the phenotypic expression may be associated with mild CF lung disease and pancreatic sufficiency. Login to comment 136 ABCC7 p.Lys710* Three other (younger) patients were compound heterozygotes for E858X/5T and K710X/5T, with episodes of dehydration and abnormal sweat chlorides, but no other clinical features of CF. Login to comment