ABCMdb

PMID: 24002981

Wang W, Sun XT, Weng XL, Zhou DZ, Sun C, Xia T, Hu LH, Lai XW, Ye B, Liu MY, Jiang F, Gao J, Bo LM, Liu Y, Liao Z, Li ZS
Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.
BMJ Open. 2013 Sep 3;3(9):e003150. doi: 10.1136/bmjopen-2013-003150., [PubMed]

Sentences

No. Mutations Sentence Comment

86 ABCC7 p.Arg117His The rate of pancreatic pseudocyst was Table 2 PRSS1, SPINK1, CFTR and CTRC gene mutations in the patients with ICP Gene mutations Region Functional class Positive, n (%) PRSS1 A16V Exon 2 Missense 0 N29I Exon 2 Missense 1 (1.3) E79K Exon 3 Missense 0 R116C Exon 3 Missense 0 A121T Exon 3 Missense 0 R122H or R122C Exon 3 Missense 6 (8.0)* SPINK1 N34S Exon 3 Missense 0 IVS3+2T>C IVS 3 Splicing 43 (57.3)ߤ CFTR R117H Exon 4 Missense 0ߥ F508del Exon 11 Del 0 c.2562T>G Exon 15 Nonsense 51 (68.0)&#a7; c.4389G>A Exon 27 Nonsense 1 (1.3) CTRC c.143A>G Exon 3 Missense 0 c.180C>T Exon 3 Nonsense 0 c.217G>A Exon 3 Missense 0 c.703G>A Exon 7 Missense 0 c.760C>T Exon 7 Missense 0 p.K247_R254del Exon 7 Del 0 CLDN2 c.22G>A Exon 1 Nonsense 2 c.327A>T Exon 2 Nonsense 1 c.592A>C Exon 2 Missense 1 c.768T>C Exon 2 Nonsense 22 *One was c.364 C>T and other five were c.365 G>A. ߤThirty-three were heterozygous and 10 were homozygous. Login to comment 122 ABCC7 p.Arg75Gln Recently, Whitcomb et al reported that the coinheritance of CFTR R75Q and SPINK1 variants is significantly higher in patients with ICP than in controls (8.75% vs 0.38%). Login to comment