ABCMdb

PMID: 16124861

Cutting GR
Modifier genetics: cystic fibrosis.
Annu Rev Genomics Hum Genet. 2005;6:237-60., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu Patients carrying a substitution of glutamic acid for alanine at codon 455 (A455E) have a slower rate of decline in lung function (30, 49). Login to comment 133 ABCC7 p.Gly542* As expected, mutations highly associated with pancreatic insufficiency, such as F508 and G542X, exist at higher frequency in patients with meconium ileus than those without meconium ileus (44, 79). Login to comment 134 ABCC7 p.Gly551Asp However, G551D, a CFTR mutation that is almost exclusively associated with pancreatic insufficiency, confers a lower risk of meconium ileus (44, 57). Login to comment 136 ABCC7 p.Arg117His Finally, patients bearing CFTR mutations associated with pancreatic sufficiency such as R117H have very low rates of meconium ileus (119). Login to comment 193 ABCC7 p.Ser1455* This point may be best illustrated by the identification of four individuals in two unrelated families who carry a severe CF mutation paired with a rare nonsense mutation in CFTR (S1455X). Login to comment 318 ABCC7 p.Gly551Asp Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. Login to comment 345 ABCC7 p.Gly551Asp ABCC7 p.Arg553* Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease. Login to comment 400 ABCC7 p.Gly551Asp Compound heterozygotes for G551D/deltaF508 are clinically indistinguishable from deltaF508 homozygotes. Login to comment 544 ABCC7 p.Gly551Asp ABCC7 p.Gly542* Two cystic fibrosis patients with the genotype G542X/G551D. Login to comment 557 ABCC7 p.Ser1455* Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. Login to comment 614 ABCC7 p.Arg347Pro Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Hum. Mutat. 6:219-25 123. Login to comment