ABCMdb

PMID: 20502448

Joergensen MT, Brusgaard K, Cruger DG, Gerdes AM, Schaffalitzky de Muckadell OB
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark.
Am J Gastroenterol. 2010 Aug;105(8):1876-83. Epub 2010 May 25., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Val520Phe ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr The samples were also tested for 33 CFTR mutations, and all 6 classeswererepresented:394delTT,p.R553X,621+1G>T,p.R1162X, 1717-1G>A,3659delC,p.G542X,2183AA>G,p.W1282X,1078delT, 711+1G>T, F508del, p.S549N, I507del, p.S549R, 2184delA, p.G551D, p.G85E, p.N1303K, p.R560T, p.R117H, p.R347H, p.R347P, p.R334W, 2789+5G>A, 3849+10kbC>T, p.A445E, 3120+1G>A, p.V520F,1898+1G>A,3876delA,3905insT,andIVS8-5T.DNAwas amplified by multiplex PCR (Hybaid 4 A62, Middlesex, UK). Login to comment 85 ABCC7 p.Arg117His Out of 122 patients, 25 (20.49%, 95% CI 13.94-28.95) had SPINK1 mutations (24 p.N34S mutations and 1 p.P55S mutation), and 10 (40%) of these had additional mutations that could partially or completely cause pancreatitis; in addition to those already mentioned, 4 had CFTR mutations (1 p.R117H, 2 dF508del, and 1 IVS8-5T mutations). Login to comment 86 ABCC7 p.Arg117His Out of 122 patients, 14 (11.48%, 95% CI 6.65-18.82) had CFTR mutations (4 dF508del, 4 p.R117H, 1 394delTT, and 5 IVS8-5T); and 5 (35.7%) of these had an additional mutation as mentioned above. Login to comment 87 ABCC7 p.Arg117His As the mutation 394delTT belonged to mutation class I, dF508del to mutation class II, and the mutations p.R117H and IVS8-5T to classes IV and V, respectively, 64.3% of the patients with CFTR mutations had mutations coming from classes IV and V. Login to comment