ABCMdb

PMID: 10733236

Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M
Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.
Clin Genet. 2000 Jan;57(1):56-60., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Asn1303Lys In this group of patients, 5 were DF508 homozygotes, 1 was DF508/ N1303K and 1 was a DF508/M compound heterozygote. Login to comment 8 ABCC7 p.Asn1303Lys The co-existence of a genetic predisposition to myocardial lesions resulting most probably from severe cystic fibrosis transmembrane (CFTR) genotypes (such as DF508/DF508, DF508/N1303K) and deficiency of certain trophic factors necessary for metabolism of the myocardium, are postulated to cause myocardial complications in CF leading to circulatory failure and early death. Login to comment 58 ABCC7 p.Asn1303Lys Of 18 deceased CF patients 5 were DF508 homozygotes, 1 was a compound heterozygote DF508/N1303K and 1 was a compound heterozygote DF508/M (M - unidentified mutation). Login to comment 59 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Ser549Ile The latter was negative for 14 other mutations: DI507, 1717-1GA, G542X, G551D, R553X, R560T, 3849+10kbCT, N1303K, W1282X, S549I, S549N, 621+1GT, 2789+5GA, R117H. Login to comment 78 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys No correlation of myocardial complications with CFTR mutations has been performed so far and, in the literature, only one case was recognised as a DF508/M compound heterozygote, negative for R347P, G551D, R553X and N1303K as a second mutation (9). Login to comment 79 ABCC7 p.Asn1303Lys In our series 5 patients were DF508 homozygotes, 1 a DF508/N1303K and 1 a DF508/ M compound heterozygote. Login to comment 82 ABCC7 p.Asn1303Lys N1303K mutation was also classified as 'severe`, at least with regard to pancreatic involvement (29). Login to comment 95 ABCC7 p.Asn1303Lys This conclusion does not negate previous hypotheses: we rather postulate a co-existence of genetic predisposition to myocardial lesions resulting mainly from CFTR genotypes such as DF508/DF508 and DF508/N1303K which are considered 'severe`, and/ or the presence of certain modifier genes together with a deficiency of certain trophic factors necessary for myocardial metabolism. Login to comment 172 ABCC7 p.Asn1303Lys Osborne L, Santis G, Schwarz M et al. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Login to comment