ABCMdb

PMID: 15987793

Weiss FU, Simon P, Bogdanova N, Mayerle J, Dworniczak B, Horst J, Lerch MM
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
Gut. 2005 Oct;54(10):1456-60. Epub 2005 Jun 29., [PubMed]

Sentences

No. Mutations Sentence Comment

233 ABCC7 p.Arg117His ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Arg668Cys ABCC7 p.Ala1087Pro CFTR mutations in idiopathic pancreatitis www.gutjnl.com Three of the four compound heterozygous ICP patients carried one severe DF508 mutation (genotypes: DF508/ R117H, DF508/A1087P, DF508/D1152H) and one carried two mild mutations (S1235R/R668C). Login to comment 237 ABCC7 p.Arg347Pro ABCC7 p.Val754Met ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Gly576Ala ABCC7 p.Arg31Cys ABCC7 p.Met348Val In the group of ICP patients being heterozygous for a single CFTR mutation one severe (2184insA, this insertion causes a frame shift) and eight mild/uncommon mutations (26 S1235R, R31C, R75Q, R347P, G576A, M348V, and V754M) were identified. Login to comment 238 ABCC7 p.Ala1087Pro ABCC7 p.Met348Val M348V and A1087P present novel molecular changes in the CFTR gene with so far undetermined consequences on CFTR function. Login to comment 239 ABCC7 p.Ala1087Pro ABCC7 p.Met348Val A1087P affects the intracellular loop between the transmembrane domains M10 and M11 and is most probably a mild missense mutation whereas M348V is located in the sixth transmembrane domain of the protein, where the wild type sequence has been conserved during evolution. Login to comment 256 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg347Pro ABCC7 p.Val754Met ABCC7 p.Ile148Thr ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Arg31Cys ABCC7 p.Leu997Phe ABCC7 p.Ala1087Pro ABCC7 p.Met348Val The reason why numbers for compound heterozygous ICP patients in these studies are diverse (4/67 = 6% in our study) may be due to differences Table 1 CFTR and SPINK1 sequence variations identified in 30 of the 67 ICP patients PatientSex CFTR mutation T allele TG repeats PSTI mutation 1 M DF508/R117H 7/7 9/10 -/- 2 W DF508/A1087P 7/9 10/11 -/- 3 M DF508/D1152H 7/9 10/10 -/- 4 M S1235R/R668C 7/7 11/12 -/- 5 M 2184insA/- 7/7 10/12 -/- 6 M R31C/- 7/7 10/11 -/- 7 M R75Q/- 7/7 11/11 -/- 8 M R347P/- 7/7 11/12 -/- 9 M S1235R/- 7/7 11/12 -/- 10 W S1235R/- 7/7 11/12 -/- 11 M G576A/- 7/7 10/10 -/- 12 W M348V/- 7/9 10/10 -/- 13 M V754M/- 7/7 10/11 -/- 14 M -/- 5/7 11/12 -/- 15 W -/- 5/7 11/12 -/- 16 M -/- 5/7 11/12 -/- 17 W -/- 5/9 11/12 -/- 18 M -/- 5/7 11/12 -/- 19 M -/- 5/7 10/10 -/- 20 W -/- 5/7 10/10 -/- 21 W -/- 5/7 11/12 N34S/- 22 W -/- 7/7 10/11 N34S/- 23 M -/- 7/9 10/11 N34S/- 24 M -/- 7/7 11/11 N34S/- 25 M -/- 7/7 11/11 N34S/- 26 W -/- 7/7 11/11 N34S/- 27 M -/- 7/7 11/11 N34S/- 28 W -/- 7/7 10/11 N34S/- 29 W -/- 7/7 11/11 P55S/- 30 W -/- 7/7 11/11 IVS3+2TC/- Table 2 CFTR sequence variations identified in 11 of 60 healthy controls Control group Number DF508/- 3 R117H/- 2 I148T/- 1 L997F/- 1 5T/12TG 1 5T/11TG 3 in patient recruitment, the catchment populations, or the stringency with which cystic fibrosis patients were excluded. Login to comment