ABCMdb

PMID: 11491162

Schibler A, Bolt I, Gallati S, Schoni MH, Kraemer R
High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508.
Eur Respir J. 2001 Jun;17(6):1181-6., [PubMed]

Sentences

No. Mutations Sentence Comment

28 ABCC7 p.Arg553* ABCC7 p.Arg347Pro Twenty-five of these patients showed compound heterozygosity for DF508 and 3905insT, two patients heterozygosity for R553X and 3905insT, one patient for 1717-GRA and 3905insT, one patient for R347P and 3905insT and one patient with an unknown mutation and 3905insT. Login to comment 46 ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Lys710* R553X and K710X are nonsense mutations in exon 11 and 13, respectively, whereas R347P is a missense mutation in exon 7. Login to comment 138 ABCC7 p.Arg347Pro One patient compound heterozygous for 3905insT/R347P showed normal lung function tests at the age of 37 yrs, no P. aeruginosa colonization, normal body weight and a normal chest radiograph. Login to comment 140 ABCC7 p.Arg347Pro In comparison to compound heterozygosity for 3905insT and DF508, the R347P mutation, together with 3905insT, seems to play a dominant role leading to a less severe clinical course. Login to comment 141 ABCC7 p.Arg553* ABCC7 p.Lys710* The other four patients with compound heterozygosity for 3905insT and 1717-1GRA, R553X and K710X, respectively, did not show a different clinical course from patients with 3905insT/DF508. Login to comment