ABCMdb

PMID: 16959918

Kraemer R, Delosea N, Ballinari P, Gallati S, Crameri R
Effect of allergic bronchopulmonary aspergillosis on lung function in children with cystic fibrosis.
Am J Respir Crit Care Med. 2006 Dec 1;174(11):1211-20. Epub 2006 Sep 7., 2006-12-01 [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Arg553* Regarding CFTR stratification, 72 (59.0%) were homozygous for ⌬F508(2), 9 were compound heterozygous for the frame shift Swiss-type mutation 3905insT/⌬F, 12 (9.8%) were compound heterozygous for the missense mutation R553X/⌬F, and 29 (23.8%) had other miscellaneous genotypes (Table 1). Login to comment 73 ABCC7 p.Arg553* of Test Sessions Age Range Covered, yr (%) Patient cohort Total, n 122 Males, n (%) 62 (50.8) Females, n (%) 60 (49.2) Database follow-up Total 1,400 6-10 (80) Per child 10 (4-15) 11-15 (71) Per yr 79 (23-111) 16-20 (39) CFTR mutation stratification* ⌬F508(2) 72 (59.0) 3905insT/⌬F 9 (7.4) R553X/⌬F 12 (9.8) Miscellaneous 29 (23.8) Definition of abbreviation: CFTR ϭ cystic fibrosis transmembrane conductance regulator. Login to comment 74 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* * Miscellaneous-numbers in brackets: ⌬F508 and 1717-1GϾA(3), W1282X(2), 2347delG (1), 621ϩ1GϾT(1), Q525X(2), N1303K(1), 2176insC (1), 394delTT (1), 4005ϩ1G-A(1), 420DEL9 (1), E585X(1), G126D(1), G85E(1), R347P(1); 3905insT and 1717-1GϾA(1), K710X(1), M1101K(1), Q39X(1); R553X and R553X(1), 3905insT (1); G542X and T5(3), G542X(1); Q542X and K1200E(2); N1303K and 2347delG (1), 2789ϩ5GϾA(1); 1199delG and R560S(1). Login to comment 190 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys In our study, an attempt to correlate the prevalence of A. fumigatus sensitization and the development of an ABPA phenotype with the four most common CFTR genotypes in Switzerland (⌬F508/⌬F508, ⌬F508/3905insT [Swiss type], ⌬F508/ R553X, and miscellaneous ⌬F508/N1303K) failed to demonstrate a relevant association. Login to comment