ABCMdb

PMID: 22094894

Sultan M, Werlin S, Venkatasubramani N
Genetic prevalence and characteristics in children with recurrent pancreatitis.
J Pediatr Gastroenterol Nutr. 2012 May;54(5):645-50., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC7 p.Leu997Phe One patient was homozygous for p.L997F, and this mutation has been reported to be associated with pancreatitis (7). Login to comment 78 ABCC7 p.Ile148Thr ABCC7 p.Asp1152His ABCC7 p.Arg297Gln ABCC7 p.Arg297Trp Six patients were heterozygous for the CFTR mutation (F508del, R297W, D1152H, R297Q, and I148T). Login to comment 92 ABCC7 p.Ile148Thr This patient was diagnosed as having RAP and was found to have a combined mutation in PRSS1 (p.R116C) and CFTR genes (I148T variant on exon 4). Login to comment 93 ABCC7 p.Ile148Thr Hereditary pancreatitis has been described in carriers of the p.R116C mutation, and I148T variant was originally reported to be a disease-causing mutation (10). Login to comment 133 ABCC7 p.Leu997Phe The 1 patient homozygous for p.L997F had an equivocal sweat chloride level and this mutation has been reported to be associated with pancreatitis (7). Login to comment 134 ABCC7 p.Leu997Phe Our observation suggests that the p.L997F mutation can cause pancreatitis, although a recent review reported the mutation to be of unknown consequence (22). Login to comment 135 ABCC7 p.Ala349Val Another patient was double heterozygous for R533X/A349V, and both of these mutations are reported in patients with CF. Login to comment 137 ABCC7 p.Ile148Thr ABCC7 p.Asp1152His ABCC7 p.Arg297Gln ABCC7 p.Arg297Gln Other mutations (R297Q, D1152H, R297Q, and I148T) may be present in CF and CFTR-related disorders such as pancreatitis and obstructive azoospermia (25). Login to comment 145 ABCC7 p.Asp1152His ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Ala349Val CFTR mutations and functional consequences CFTR mutations Clinical significance (reference) F508 del Cystic fibrosis (21) 2789 þ 5G>A Cystic fibrosis (21) 5T CFTR-related disorder (pancreatitis, obstructive azoospermia) (21) R533X Cystic fibrosis (22) A349V Unknown clinical significance (26) p.L997F Unknown clinical significance (21), possible CFTR-related disorder (pancreatitis) (7) R297Q Unknown clinical significance (21) D1152H Cystic fibrosis and CFTR-related disorder (21) I 148T Cystic fibrosis (27) CFTR ¼ cystic fibrosis transmembrane conductor regulator. Login to comment 163 ABCC7 p.Arg75Gln Schneider et al (27) showed that CFTR variant p.R75Q with a SPINK1 mutation increases the risk of CP with an odds ratio of 25.1. Login to comment