ABCMdb

PMID: 9098486

Villalobos-Torres C, Rojas-Martinez A, Villareal-Castellanos E, Cantu JM, Sanchez-Anzaldo FJ, Saiki RK, Barrera-Saldana HA
Analysis of 16 cystic fibrosis mutations in Mexican patients.
Am J Med Genet. 1997 Apr 14;69(4):380-2., [PubMed]

Sentences

No. Mutations Sentence Comment

14 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu According to data from the Cystic Fibrosis Genetic Analysis Consortium [1994] (CFGAC), the most frequent non-⌬F508 mutations are the following: G542X (2.4%), G551D (1.6%), N1303K (1.3%), W1282X (1.2%), R553X (0.7%), 621 + 1 G→T (0.7%), 1717 - 1 G→T (0.6%), R117H (0.3%), R1162X (0.3%), G85E (0.2%), R347P (0.2%), ⌬I507 (0.2%), and 3849 + 10 kb C→T (0.2%). Login to comment 44 ABCC7 p.Gly542* ABCC7 p.Gly542* All patients with two severe mutations suffered PI (⌬F508/G542X, G542X/S549N, and ⌬F508/⌬F508). Login to comment 47 ABCC7 p.Gly542* Of the two G542X/unknown heterozygotes, one had PI and the other had pancreatic sufficiency (PS). Login to comment 48 ABCC7 p.Asn1303Lys The N1303K/ unknown heterozygote had a history of meconium ileus and PI. Login to comment 54 ABCC7 p.Gly542* The G542X mutation is second in frequency after ⌬F508, as has been reported worldwide and for Spain, where it has a frequency of 8.0% [Casals et al., 1993]; this is similar to the 4.8% value reported for Southern Europeans, specifically Italians [Nunes et al., 1991]. Login to comment 58 ABCC7 p.Asn1303Lys ABCC7 p.Ser549Asn Mutations N1303K, S549N and 621 + 1 G→T had same frequency (1.25%) which was the lowest detected in our sample. Login to comment 59 ABCC7 p.Asn1303Lys N1303K mutation has been reported in TABLE I. Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr Mutation Frequency Data and Geographic Distribution of the Mutations Found in 80 Chromosomes From Mexican CF Patients Mutation Northeast n ‫ס‬ 54 Central n ‫ס‬ 16 Western n ‫ס‬ 10 Total n ‫ס‬ 80 CFGAC [1994] (%)n (%) n (%) n (%) n (%) ⌬F508 27 (50) 2 (12.5) 7 (70) 36 (45) 66 G542X 2 (3.7) 2 (12.5) 0 4 (5) 2.4 3849 + 10 kb C→T 1 (1.9) 0 1 (10) 2 (2.5) 0.2 N1303K 0 1 (6.25) 0 1 (1.25) 1.3 S549N 0 1 (6.25) 0 1 (1.25) 0.1 621 + 1 G→T 0 0 1 (10) 1 (1.25) 0.7 Othera 24 (44.4) 10 (62.5) 1 (10) 35 (43.7) Detected 30 (55.6) 6 (37.5) 9 (90) 45 (56.3) a Different from W1282X, R117H, R334W, R347P, A455E, ⌬I507, 1717 - 1 G→T, G551D, R553X, and R560T. Login to comment 62 ABCC7 p.Ser549Asn It is interesting that we found one S549N mutant chromosome, which has a frequency of 0.1% worldwide. Login to comment