ABCMdb

PMID: 18301294

Augarten A, Ben Tov A, Madgar I, Barak A, Akons H, Laufer J, Efrati O, Aviram M, Bentur L, Blau H, Paret G, Wilschanski M, Kerem BS, Yahav Y
The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.
Eur J Gastroenterol Hepatol. 2008 Mar;20(3):164-8., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Ile1234Val ABCC7 p.Thr360Lys ABCC7 p.Gln359Lys The mutations DF508, W1282X, G542X, S549R, Q359K/T360K, 405 + 1G, 1717, and N1303K were defined as severe and the mutations 3849 + 10 kb, D1152H, G85E, I1234V, R334W, and 5T were defined as mild/variable. Login to comment 46 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Ile1234Val ABCC7 p.Thr360Lys ABCC7 p.Gln359Lys of patients W1282X/3849 + 10 kb 15 W1282X/5T 15 DF508/5T 7 DF508/D1152H 6 DF508/3849 + 10 kb 5 W1282X/D1152H 5 W1282X/I1234V 2 3849 + 10 kb/405 + 1G- > A 2 R334W/R334W 2 5T/5T 2 D1152H/D1152H 1 D1152H/5T 1 D1152H/3849 + 10 kb 1 DF508/UKN 13 W1282X/UKN 11 5T/UKN 7 D1152H/UKN 3 1717/UNK 1 G85E/UKN 1 Q359K/T360K/UKN 1 S549R/UKN 1 3849 + 10 kb/UKN 1 UKN/UKN 36 CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane regulator. Login to comment 69 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Ile1234Val ABCC7 p.Ile1234Val Table 3 The clinical characteristics of the PS patients who became PI Age at CF diagnosis Presenting symptom Age at first pancreatitis event Age at transition PS-PI Genetic profile Sweat Clmmol/l 19 years Pulmonary 19 yearsa 22 years W1282X/G85E 66 6 months Affected sibling 3 yearsa 14 years W1282X/I1234V 82 1 month Affected sibling (None) 12 years DF508/G85E 32 28 years Pancreatitis 28 yearsa 34 years D1152H/5T 30 CF, cystic fibrosis; PI, pancreatic insufficient; PS, pancreatic sufficient. Login to comment 72 ABCC7 p.Arg334Trp ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Ile1234Val The other mutations carried by the PS group (D1152H, G85E, I1234V, and R334W) were also found to cause variable clinical expressions [7-10]. Login to comment