ABCMdb

PMID: 23951356

Masson E, Chen JM, Audrezet MP, Cooper DN, Ferec C
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
PLoS One. 2013 Aug 8;8(8):e73522. doi: 10.1371/journal.pone.0073522. eCollection 2013., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCC7 p.Arg117His Whereas the presence of two highly deleterious ('severe`) CFTR alleles (as in p.F508del homozygotes) is necessary to give rise to classic cystic fibrosis, heterozygosity for such an allele is sufficient to confer an increased risk of ICP, whilst compound heterozygosity, involving a severe CFTR allele plus a less deleterious ('mild`) allele (e.g. p. F508del/p.R117H), confers a further increase in risk [7,8]. Login to comment 113 ABCC7 p.Arg1162Leu ABCC7 p.Leu967Ser For example, F508del, L967S and R1162L (Figure 2) fell into the A (cystic fibrosis-causing severe alleles), B (cystic fibrosis mild alleles and those associated with CFTR-related disorders [7]) and C (the remaining CFTR alleles) categories, respectively. In general, we treated those alleles of unknown significance conservatively by placing them into the C category. Login to comment 114 ABCC7 p.Arg75Gln Of particular note, p. R75Q was placed in category C on the basis that it was not overrepresented in our patient cohort [4.7% (12/253)] as compared with a sample of 514 French controls [4.9% (25/514)]. Login to comment 116 ABCC7 p.Arg75Gln In the latter study, p. R75Q was reported to be overrepresented in patients as compared to controls (16% vs. 5.3%). Login to comment 117 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln Contrary to the findings of the Schneider study [46], we did not find any preferential co-occurrence of CFTR p. R75Q with SPINK1 p. N34S; only two of our seven heterozygous CFTR p. R75Q patients also carried a heterozygous SPINK1 p. N34S (patients 19 and 130, Table S1). Login to comment 249 ABCC7 p.Leu997Phe 27. Masson E, Le Mar&#e9;chal C, Levy P, Chuzhanova N, Ruszniewski P et al. (2007) Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Login to comment