ABCMdb

PMID: 16266832

Peckham D, Conway SP, Morton A, Jones A, Webb K
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
J Cyst Fibros. 2006 Jan;5(1):63-5. Epub 2005 Nov 2., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Arg117His In each case two CFTR gene mutations were identified, including R117H on a background of a poly T genotype of 7T/ 9T. Login to comment 3 ABCC7 p.Arg117His Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease. Login to comment 5 ABCC7 p.Arg117His Keywords: Cystic fibrosis; Late diagnosis; R117H; 7T; Bronchiectasis 1. Login to comment 9 ABCC7 p.Arg117His We report late diagnoses of CF in two elderly men, both of whom had an R117H mutation on a background of a poly T genotype of 7T/9T. Login to comment 28 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys Genetic analysis demonstrated N1303K and R117H with a poly T genotype 9T/7T. Login to comment 42 ABCC7 p.Arg117His CFTR genotype analysis revealed delta 508 and R117H with a poly T genotype 9T/7T. Login to comment 46 ABCC7 p.Arg117His Discussion Doubts have been expressed over the diagnosis of cystic fibrosis in patients with R117H with a background 7T polythymidine tract at intron 8. Login to comment 51 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His The presence of R117H/DF508 on a background of 5T is associated with elevated or borderline sweat test, moderate lung disease, pancreatic exocrine sufficiency and male infertility while R117H/DF508 in association with 7T is associated with a normal, borderline or elevated sweat test and variable clinical presentation [1-4,6-8] R117H in association with 9T is very unusual but has been reported [5]. Login to comment 53 ABCC7 p.Arg117His While R117H is associated with a broad phenotype, it is often associated with a normal or borderline sweat test despite the presence of sino pulmonary disease. Login to comment 55 ABCC7 p.Arg117His Taylor et al. reported the cases of three infants with DF508/R117H genotype on a 7T/9T background identified through routine screening. Login to comment 59 ABCC7 p.Arg117His Conclusion The presence of two CF mutations including R117H with a 7T allele can be associated with late presentation and severe lung disease. Login to comment