ABCMdb

PMID: 11345141

Modolell I, Alvarez A, Guarner L, De Gracia J, Malagelada JR
Gastrointestinal, liver, and pancreatic involvement in adult patients with cystic fibrosis.
Pancreas. 2001 May;22(4):395-9., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC7 p.Gly542* The second most prevalent mutation was G542X, present in eight patients. Login to comment 46 ABCC7 p.Leu206Trp Mutations L206W and 2789+5G>A were identified in five patients each. Login to comment 47 ABCC7 p.Arg334Trp R334W was present in four patients of group B. Login to comment 50 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Leu206Trp In the remaining 14 patients, ⌬F508 was carried with G542X, R1162X, N1303K, L206W, 1717-1G>A, 711+1G>T, or an unidentified mutation. Login to comment 51 ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gln890* In the 10 patients of group A without ⌬F508, the mutations identified were: G542X (present in five), R1162X, Q890X, ⌬I507, 2183A, and 1609-CA. Login to comment 54 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Leu206Trp ⌬F508 was present in only 21 of the 50 patients and was in heterozygosis in all cases, carried together with L206W, 2789+5G>A, 3272-26A>G, R117H, 5T, R334W, or an unidentified mutation. Login to comment 56 ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu 5T, G542X, R334W, N1303K, L206W, 3659-C, and G85E were identified in the remaining nine patients. Login to comment 64 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Asp1270Asn ABCC7 p.Pro205Ser ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu ABCC7 p.Gln890* ABCC7 p.Asp836Tyr Other genotypes present in our series ⌬F508/711+1G>T 2A 5T/5T 1B ⌬F508/5T 2B ⌬1507/- 1A ⌬F508/R117H 2B R1162X/1898+1G>A 1A ⌬F508/R1162X 1A 2183A/- 1A ⌬F508/N1303K 1A 1609-CA/1811+1.6kbA>G 1A ⌬F508/3272-26A>G 1B 1609-CA/R347P 1A ⌬F508/D836Y 1B Q890X/- 1A ⌬F508/1717-1G>A 1A R334W/- 1B G542X/W1282X 1A N1303K/2789+5G>A 1B G542X/2789+5G>A 1B 3659-C/- 1B G542X/P205S 1B G85E/- 1B G542X/D1270N 1B Negative 1A, 20B L206W/- 1B Unknown 2A creatic insufficiency was highly prevalent, affecting 33 patients (84.6%). Login to comment 98 ABCC7 p.Gly542* The second most prevalent mutation, G542X, was present in eight patients (8.98%), a prevalence similar to that described in the literature. Login to comment 135 ABCC7 p.Gly542* The four patients in our series ⌬F508/G542X all belonged, as expected (28), to group A and three of them had pancreatic insufficiency. Login to comment 136 ABCC7 p.Arg334Trp The four patients, who were carriers of the missense mutation R334W characteristic of late-onset pancreatic insufficiency (30), belonged to group B, and their pancreatic function was at least clinically preserved. Login to comment 137 ABCC7 p.Leu206Trp Interestingly, of the eight group B pancreatic-insufficient patients, four were carriers of ⌬F508, in three cases with known mutations: 2789+5G>A and L206W; another patient was 5T homozygote. Login to comment