ABCMdb

PMID: 22992393

Liu LC, Shyur SD, Chu SH, Huang LH, Kao YH, Lei WT, Cheng CH, Lo CY, Chen CK, Fang LC
Cystic fibrosis: Experience in one institution.
J Microbiol Immunol Infect. 2012 Sep 16. pii: S1684-1182(12)00118-1. doi: 10.1016/j.jmii.2012.06.005., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Ile1023Arg ABCC7 p.Ile1023Arg Cases 2 and 3 had heterozygous c. 1898þ5 G->T and heterozygous p. I1023R (novel mutation) for the CFTR gene mutation. Login to comment 6 ABCC7 p.Arg553* Case 4 was homozygous for the CFTR gene mutation R553X being reported in 2005 and complicated with cor pulmonale. Login to comment 36 ABCC7 p.Ile1023Arg CF was suspected due to recurrent P aeruginosa pneumonia and pneumothorax and was confirmed by gene analysis with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutation (novel mutation) at the age of 16 years. Login to comment 37 ABCC7 p.Ile1023Arg His mother had a heterozygous mutation in p. I1023R and his father had a heterozygous mutation in c. 1898þ5 G- >T (Fig. 2). Login to comment 47 ABCC7 p.Ile1023Arg ABCC7 p.Ile1023Arg CF was suspected and also confirmed by DNA analysis, with heterozygous c. 1898þ5 G->T and heterozygous p. I1023R mutations (Fig. 2). Login to comment 59 ABCC7 p.Arg553* CF was suspected and confirmed by DNA analysis with homozygosity for the CFTR gene mutation R553X. Login to comment 60 ABCC7 p.Arg553* ABCC7 p.Arg553* CF was suspected and confirmed by DNA analysis with homozygosity for the CFTR gene mutation R553X. Login to comment 61 ABCC7 p.Arg553* Both of his parents were heterozygous for the CFTR gene mutation R553X (Fig. 3). Login to comment 70 ABCC7 p.Ile1023Arg The gene mutation in Case 1 was 3849&#fe;10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898&#fe;5 G- >T and heterozygous p. I1023R mutations. Login to comment 71 ABCC7 p.Ile1023Arg The gene mutation in Case 1 was 3849þ10kb C/T, which has an incidence of about 0.7% worldwide.5 Cases 2 and 3 had heterozygous c. 1898þ5 G- >T and heterozygous p. I1023R mutations. Login to comment 72 ABCC7 p.Arg553* In addition to Cases 2 and 3 in this report, the nucleotide mutation of c. 1898&#fe;5 G->T was reported previously in four Taiwanese patients.2 The homozygous R553X mutation in Case 4 had defective regulation and the CFTR was not activated by ATP or cyclic AMP; this is accounted for in 0.9% of CF patients. Login to comment 73 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* In addition to Cases 2 and 3 in this report, the nucleotide mutation of c. 1898þ;5 G->T was reported previously in four Taiwanese patients.2 The homozygous R553X mutation in Case 4 had defective regulation and the CFTR was not activated by ATP or cyclic AMP; this is accounted for in 0.9% of CF patients. Login to comment 74 ABCC7 p.Arg553* ABCC7 p.Arg553* Most of the R553X mutations are heterozygous and only two cases of homozygosity for R553X have been reported to date.2,5 The clinical manifestations of CF vary. Login to comment