ABCMdb

PMID: 19645745

Shah U, Frossard P, Moatter T
Cystic fibrosis: defining a disease under-diagnosed in Pakistan.
Trop Med Int Health. 2009 May;14(5):542-5., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Ser549Asn One patient was a F508 / S549N compound heterozygote. Login to comment 29 ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Arg1158* For example, S549N (G>A) homozygosity previously reported from a Pakistani family has also been associated with significant disease, while in contrast another patient with a compound heterozygote mutation, S549R / R1158X gene, presented with a mild form of CF (Frossard et al. 1999; Romey et al. 1999). Login to comment 51 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Tyr569Asp ABCC7 p.Gly551* Common mutations such as DF508, S549R, S549N, Y569D, 296 + 12(T>C), R553X, G551D and G551X were screened by allele-specific polymerase chain reaction using published oligonucleotide sequences as template primers (Kerem et al. 1989; Riordan et al. 1989; Rommens et al. 1989; : Collins 1992b). Login to comment 60 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Tyr569Asp ABCC7 p.Gly551* The remaining 150 samples were tested by PCR for DF508, S549N, S549R, Y569D, 296 + 12(T>C), R553X, G551D, G551X (Table 1). Login to comment 64 ABCC7 p.Ser549Asn One patient was identified with a compound DF508 / S549N mutation. Login to comment 81 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Tyr569Asp ABCC7 p.Gly551* These mutations were S549N, S549R, Y569D, 296 + 12(T>C), R553X, G551D and G551X. Login to comment 84 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Ser549Arg ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn ABCC7 p.Tyr569Asp ABCC7 p.Gly551* Some of the common mutations detected on PCR in our study, such as the S549N and S549R, were not confirmed by sequencing. We did confirm the results of one patient who was a compound heterozygote for the DF508 / S549N Table 1 Frequencies of mutations identified by allele specific PCR Mutations Homozygous Heterozygous delF508 12 14 S549N 0 1 S549R 1 19 Y569D 0 0 296 + 12(T>C) 0 0 R553X 0 0 G551D 0 0 G551X 0 0 Table 2 Mutations identified by sequencing Exon Sequenced (n) Mutations identified (n) Exon 10 87 4 Exon 11 43 1 Exon 12 29 0 Tropical Medicine and International Health volume 14 no 5 pp 542-545 may 2009 U. Shah et al. Cystic fibrosis in Pakistan ª 2009 Blackwell Publishing Ltd mutation and had very aggressive disease. Login to comment 87 ABCC7 p.Ser549Asn Previously identified regional mutations, except for S549N, were not found in our patients. Login to comment