ABCMdb

PMID: 15097853

Casals T, Aparisi L, Martinez-Costa C, Gimenez J, Ramos MD, Mora J, Diaz J, Boadas J, Estivill X, Farre A
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
Pancreas. 2004 May;28(4):374-9., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Met281Thr Twelve out of 16 changes observed (75%) were missense mutations/variants, the M281T a T→C substitution at nucleotide 974 is reported for the first time in this work. Login to comment 51 ABCC7 p.Trp1282* The most common mutation in the CFTR gene, F508del, was found in 3 ACP patients (8%), another common CF mutation, W1282X, was identified in 1 ACP patient. Login to comment 56 ABCC7 p.Arg668Cys ABCC7 p.Leu997Phe Also, 2 missense mutations/variants, the R668C and L997F were detected in both CP groups. Login to comment 57 ABCC7 p.Arg668Cys The R668C was found isolated in 1 ACP patient and as the complex allele D443Y+G576A+R668C (common in CBAVD) in 1 ICP patient. Login to comment 63 ABCC7 p.Trp1282* ABCC7 p.Pro205Ser ABCC7 p.Arg258Gly ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Arg1162Leu ABCC7 p.Arg170His ABCC7 p.Arg170Cys ABCC7 p.Met281Thr Time Years BMI Alcohol Alcohol Time Years Tobacco Pancreatic Features Hepatobiliary Disease CFTR Genotype Sweat Test mmol/L FEV1/FVC % Predicted Male Fertility Alcoholic Chronic Pancreatitis (n = 15) 1 M/52 15 24.5 110g/d 27 yes AP, P, Ps, DM, PI Chronic hepatitisa F508del/S1235R 18 105/107 yes 2 M/72 15 23.4 85g/d 22 yes AP, P, C, PS no F508del/1716G/A 72 90/104 yes 3 M/53 10 21.9 135g/d 20 yes P, C, DM, PI no F508del/- 54 71/89 yes 4 M/64 18 20.7 250g/d 27 yes AP, P, C, Ps, DM, PI cirrhosis, lithiasis W1282X/- 68 71/78 unproved 5 M/44 13 22.0 95g/d 6 yes AP, P, C, Ps, DM, PI lithiasis R170C/- 16 105/111 yes 6 M/62 12 22.1 >60g/d >5 yes AP, P, C, Ps, DM, PS no R258G/- 82 73/82 yes 7 M/38 9 18.0 210g/d 15 yes AP, P, C, Ps, PS no M281T/- 62 132/126 yes 8 M/40 11 - >60g/d >5 yes AP, P, C, Ps, PS lithiasis R297Q/- 46 103/99 yes 9 M/42 2 21.4 150g/d 20 yes AP, P, C, Ps, PS no 1716G/A/- 19 93/102 yes 10 M/44 3 22.2 95g/d 22 yes AP, P, DM, PS no R668C/- 58 105/102 yes 11 M/59 6 21.8 90g/d 18 yes PS lithiasis L997F/- 85 69/84 nd 12 M/72 16 - >60g/d >5 no P, C, DM, PI lithiasis R1162L/- - - yes 13 M/35 8 21.0 90g/d 7 yes AP, P, C, PS no 5T-12TG-V470/- 13 106/114 unproved 14 M/60 14 28.0 80g/d 20 no AP, P, C, Ps, DM, PI no 5T-11TG/- 28 80/77 yes 15 M/65 12 24.4 100g/d 23 yes AP, P, C, DM, PS no 5T-11TG/ 40 86/110 yes Idiopathic Chronic Pancreatitis (n = 12) 16 M/21 5 - no - yes AP, P, PS no 1716G/A/R170H 40 normal yes 17 M/59 4 24.2 no - no PS chronic hepatitisb 1716G/A/- 40 146/128 yes 18 M/63 14 21.4 no - no DM, PI no 1716G/A/- 34 144/126 yes 19 M/70 18 19.9 no - yes AP, P, DM, PI chronic hepatitisa 1716G/A/- 60 36/47 yes 20 M/65 1 27.7 no - yes P, Ps, DM, PI no 1716G/A/- 38 79/78 yes 21 M/76 8 24.1 no - no AP, P, DM, PS no 1716G/A/- 60 81/109 yes 22 M/25 2 25.0 no - yes AP, P, PS no 1716G/A/- 48 94/86 nd 23 F/42 10 22.6 no - yes P, C, PS lithiasis P205S/- 72 111/109 - 24 F/81 21 34.6 no - no P, C, DM, PI lithiasis D443Y+G+R*/- 42 121/108 - 25 F/72 8 23.3 no - yes AP, C, PS no L997F/- 40 100/93 - 26 M/9 2 19.2 no - no AP, P, PS no 5T-11TG/- 30 101/110 nd 27 M/63 6 - no - no C, DM, PI cirrhosis 5T-11TG/- - - yes a C virus hepatitis. Login to comment 90 ABCC7 p.Trp1282* Common CF mutations, F508del and W1282X, were found exclusively in ACP (11%). Login to comment 95 ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe Our results suggest that the 1716G/A variant could be a predisposing factor to CP, as well as the L997F mutation, that was found associated with idiopathic pancreatitis and neonatal hypertrypsinemia.22 In our cohort of patients, the L997F mutation was detected in both groups (3%). Login to comment