ABCMdb

PMID: 14562574

Morinville V, Perrault J
Genetic disorders of the pancreas.
Gastroenterol Clin North Am. 2003 Sep;32(3):763-87., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gln493* ABCC7 p.Arg560Thr The close monitoring of the families affected with this condition played an important role in the identification of their genetic anomaly; the S family, described by McElroy and Christiansen in 1972 [34], was to play a pivotal role in helping Whitcomb et al 25 years later to uncover the Table 1 Recent genetic information on pancreatitis in children Gene Chromosome Mutations References Cationic trypsinogen (protease, serine1; PRSSI) 7q35 R122H; N29I A16V; others [4,11-19] Pancreatic trypsin inhibitor (PSTI) (SPINK1-serine protease inhibitor, Kazal Type 1) 5 N34S [20-22] CFTR-cystic fibrosis transmembrane regulator 7 DF508; R117H; Q493X R560T; R553X; 5Tallele; 621 + 1(G!T) and others [23-27] Parathyroid cell receptor (CaR) 3 (3q21-24) N178D; R220Q; P221S; R648X; others [28-30] Lipoprotein lipase (LPL) 8 (8p22) N291S, S447X; G715A [31,32] Apolipoprotein C-II (apoC-II) 19 (19q13.2) Val 18, Gln 2 and others [31] chromosomal [11], then the genetic abnormality [1], while in France Le Bodic et al [12] identified a very similar anomaly in a family described in 1963 by Cornet et al [35]. Login to comment 52 ABCC7 p.Arg117His Pfutzer and Whitcomb [17] also found CFTR R117H mutation in one family affected with A16V mutation, leading them to raise the question as to whether this latter mutation might represent a modifier gene requiring another mutation, rather than an independent risk factor, for development of pancreatitis. Login to comment 77 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Gln493* ABCC7 p.Arg560Thr Mutations, including delta F508, R117H, Q493X, 621 + 1 (G!T), R560T, R553X, were found at 2.5 times the frequency expected in the general population studied (600 controls included). Login to comment 80 ABCC7 p.Arg117His ABCC7 p.Asn1303Lys Ten of twenty-seven (37%) had at least one abnormal CFTR allele (deltaF508, R117H, N1303K, and the 5T allele), none with criteria diagnostic of cystic fibrosis. Login to comment 84 ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Asn1303Lys ABCC7 p.Asp1152His ABCC7 p.Gly1069Arg Mutations of CFTR include: deltaF508, R117H, D1152H, P574H, 3120 G > A, 621 + 1 G > T, G1069R, N1303K. Login to comment