ABCMdb

PMID: 11113843

Callen A, Diener-West M, Zeitlin PL, Rubenstein RC
A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function.
J Pediatr. 2000 Dec;137(6):849-55., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347Pro ABCC7 p.Gly542* Among the females with CF, 7 had homozygous ࢞F508 genotypes; 2 had ࢞F508/unknown genotypes; and one each had a genotype of ࢞F508/G551D, ࢞F508/R117H, ࢞F508/3489 + 10 kb C to T, ࢞F508/G542X, ࢞F508/R347P, and R117H/unknown. Login to comment 61 ABCC7 p.Gly542* Of the males with CF, 11 had homozygous ࢞F508 genotypes, one had a ࢞F508/G542X genotype, and 2 had unknown genotypes. Login to comment 63 ABCC7 p.Trp1282* Only one subject in the control group reported a relative with CF. This subject had been previously screened for ࢞F508 and W1282X (because of ethnicity) and does not carry these CF mutations. Login to comment 108 ABCC7 p.Arg117His Similarly, some CF homozygotes with so-called "mild mutations" (partially functional CFTR proteins) may be able to produce sweat with a normal or borderline chloride concentration (eg, R117H or 3849 + 10 kb C ࢐ T),4 making the sweat chloride test non-diagnostic in these subjects, although their cAMP-stimulated sweat rate may be decreased. Login to comment 113 ABCC7 p.Arg117His Although it is possible that the single CFTR mutation might still retain some partial degree of CFTR function, as would be predicted for the R117H allele, very few of the heterozygote volunteers had such genotypes. Login to comment