ABCMdb

PMID: 8553305

Gan KH, Geus WP, Bakker W, Lamers CB, Heijerman HG
Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years.
Thorax. 1995 Dec;50(12):1301-4., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Glu60* ABCC7 p.Gly550* DNA was analysed for the following mutations: E60X, R117H, A455E, AI507, AF508, G542X, S549N, G550X, G551D, R553X, R560T, R1162X, S1251N, W1282X, N1303K, 621 + 1G-+T, 1717-1G--+A. These mutations represent 80% ofthe expected cystic fibrosis mutations in The Netherlands. Login to comment 65 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Glu60* ABCC7 p.Gly550* Table 3 CFTR mutations in 278 chromosomes of adult cystic fibrosis patients Early diagnosis Late diagnosis (n= 118) (n=25) n % n % AF508s 175 74-2 18 36-0 A455Em 12 5-1 14 28-0 1717-15 6 2-5 1 2-0 G542X' 4 1-7 - W1282X1 3 1-3 - R553X' 1 04 1 2-0 S1251N 2 0-8 - N1303K' 1 0 4 - E60X 1 0-4 3 6-0 Not identified 31 13-2 13 26-0 Total 236 50 Mutations not found: RI 17H, AI507, S549N, G550X, G551D, R560T, R1162X, 621+1G-+T. Login to comment 69 ABCC7 p.Ala455Glu The A455E mutation was relatively frequent in the LD group. Login to comment 98 ABCC7 p.Ala455Glu Most of those diagnosed at 16 years or older were pancreatic sufficient, which is closely related to the type of CFTR mutation.2829 The A455E mutation was frequently found among this group of patients and preliminary studies indicate that this mutation, known to be related to pancreatic sufficiency,29 may be associated with mild pulmonary disease.30 It seems that other CFTR mutations (some ofwhich are still unidentified) in patients diagnosed late are associated with pancreatic sufficiency and also with mild pulmonary disease. Login to comment