PMID: 22158025

Bertin C, Pelletier AL, Vullierme MP, Bienvenu T, Rebours V, Hentic O, Maire F, Hammel P, Vilgrain V, Ruszniewski P, Levy P
Pancreas divisum is not a cause of pancreatitis by itself but acts as a partner of genetic mutations.
Am J Gastroenterol. 2012 Feb;107(2):311-7. doi: 10.1038/ajg.2011.424. Epub 2011 Dec 13., [PubMed]
Sentences
No. Mutations Sentence Comment
48 ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 22158025:48:444
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Arg74Trp
X
ABCC7 p.Arg74Trp 22158025:48:439
status: NEW
view ABCC7 p.Arg74Trp details
 We defined three groups of patients: (i) common CF mutations called CFcom, previously identified in patients with classic CF with or without pancreatic insufficiency (such as p.F508del, p.W1282, and so on…); (ii) uncommon CF mutations causing variable phenotype called CFunc, previously identified in patients with CFTR-related disease such as bilateral absence of the vas deferens, disseminated bronchiectasis, and pancreatitis (p.R74W-D1270N, IVS8-5T, and so on…); and (iii) variants of unknown significance called CFvus, considered to be polymorphisms on the basis of linkage analysis and their frequency in normal individuals, but which may alter the CFTR protein function in a minor way (such as 1716G>A (p.E528E), p.R75Q…) (www.genet.sickkids.on.ca/cftr/app) (34). Login to comment