ABCMdb

PMID: 12452372

Gaia E, Salacone P, Gallo M, Promis GG, Brusco A, Bancone C, Carlo A
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Dig Dis Sci. 2002 Nov;47(11):2416-21., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCC7 p.Trp1282* ABCC7 p.Arg1162* ABCC7 p.Arg352Gln ABCC7 p.Arg75Gln ABCC7 p.Arg31Cys ABCC7 p.Lys68Asn ABCC7 p.Asn187Lys All mutations (W1282X, N187K, R352Q, ⌬F508, R75Q, R31C, 621ϩ2T-ϾG, I197V, K68N, R1162X) were found in heterozygotes, indicating that these patients are carriers of a single mutation. Login to comment 78 ABCC7 p.Trp1282* ABCC7 p.Arg1162* ABCC7 p.Arg352Gln ABCC7 p.Arg75Gln ABCC7 p.Arg31Cys ABCC7 p.Lys68Asn ABCC7 p.Asn187Lys PATIENTS CARRYING THE CFTR MUTATION* Pt Sex Age (yr) Age at onset (yr) Alcohol (g/day)† Familial CFTR mutations Exocrine insufficiency Diabetes mellitus(Յ10) (10-40) (40-80) T.B. M 59 23 (Յ10) No W1282X Yes No B.G. M 40 29 (Յ10) Yes N187K No No E.P. M 40 34 (Յ10) No R352Q No Yes D.N. M 53 47 (10-40) No R75Q Yes No R.L. F 57 44 (Յ10) No R31C No No T.F. M 56 *‡ (Յ10) No 621 ϩ 2T 3 G Yes No F.G. M 54 46 (10-40) No I197V Yes No V.M. M 65 *† (10-40) No K68N Yes No B.L. F 57 56 (10-40) Yes ⌬F508 No Yes T.G. M 25 24 (Յ10) No R1162X No No *This table shows the characteristics of chronic pancreatitis patients, carriers of CFTR mutations. Login to comment 86 ABCC7 p.Trp1282* ABCC7 p.Arg1162* Of the 10 CFTR gene mutations found, three belong to class I (W1282X, 621ϩ2T-ϾG, R1162X) and are associated to absence of or reduced proteic synthesis. Login to comment 88 ABCC7 p.Arg352Gln ABCC7 p.Arg75Gln ABCC7 p.Arg31Cys ABCC7 p.Lys68Asn Four mutations were found in patients with mild forms of CF (R31C, K68N, R75Q, and R352Q). Login to comment 89 ABCC7 p.Asn187Lys The remaining two (N187K and I197V) are missense mutations that have never been observed before. Login to comment 95 ABCC7 p.Arg117His recently published data on some case histories where no high frequency of severe mutations (such as ⌬F508 and R117H) was found in patients with chronic pancreatitis (19, 20). Login to comment