ABCMdb

PMID: 17716958

Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PS
Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
J Cyst Fibros. 2008 Mar;7(2):110-5. Epub 2007 Aug 22., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Arg352Gln ABCC7 p.Ser549Asn ABCC7 p.Arg75Gln ABCC7 p.Arg1158* In addition, c.3849+10 kb CNT, c.1161delC, and p.S549N were identified in two patients each and p. R352Q, p.R1158X and p.R75Q were identified in one patient each. Login to comment 7 ABCC7 p.Leu183Ile ABCC7 p.Gly149* Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p. L183I were also identified. Login to comment 11 ABCC7 p.Ser549Asn Conclusions: A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb CNT and p.S549N. Login to comment 79 ABCC7 p.Ser549Asn Three other mutations, c.3849+10 kb CNT, c.1161delC and p.S549N were seen in two patients each. Login to comment 82 ABCC7 p.Arg352Gln ABCC7 p.Ser549Asn ABCC7 p.Arg75Gln ABCC7 p.Arg1158* ABCC7 p.Gly149* SSCP/HA SSCP/HA identified at least one mutation in exons 3, 4, 7, 11 and 19 viz. p.R75Q in exon 3, p.G149X in exon 4, c.1161delC, p.R352Q and c.1002-7_1002-5delTTT in exon 7, p.S549N in exon 11 and p.R1158X in exon 19. Login to comment 83 ABCC7 p.Leu183Ile A mutation (p.L183I) was detected in exon 5. Login to comment 85 ABCC7 p.Leu183Ile ABCC7 p.Gly149* Novel mutations identified Three mutations (c.1002-7_1002-5delTTT, p.L183I, p. G149X) unpublished so far (Table 2) were detected in one patient each. Login to comment 86 ABCC7 p.Leu183Ile ABCC7 p.Gly149* While c.1002-7 to 1002-5delTTT was detected in homozygous state, p.L183I and p.G149X were detected in heterozygous state. Login to comment 94 ABCC7 p.Leu183Ile ABCC7 p.Gly149* Severe clinical phenotype was seen in a patient with p.G149X mutation and low CF score, whereas milder CF phenotype was seen in the two patients with c.1002-7_1002- 5delTTT and p.L183I. Login to comment 100 ABCC7 p.Arg1158* Of these six were p.F508del homozygotes, one was compound heterozygous for p.F508del with p.R1158X and another was homozygous for c.1161delC. Login to comment 116 ABCC7 p.Leu183Ile ABCC7 p.Leu183Ile ABCC7 p.Gly149* ABCC7 p.Gly149* The frequency Table 2 New mutations identified in patients with cystic fibrosis Mutation 1 Mutation 2 Mutation 3 Exon/intron Exon 4 Intron 6b Exon 5 Mutation p.G149X (c.577GNT) c.1002-7_1002-5delTTT p.L183I (c.679CNA) Resulting change Stop codon at 149 Deletion of 3 bp in intron 6b/exon7 boundary Leucine to isoleucine at 183 Genotype of the patient p.[F508del]+[G149X] c. Login to comment 117 ABCC7 p.Leu183Ile [1002-7_1002-5delTTT]+[1002-7_1002-5delTTT] p.[L183I]+[?] Login to comment 121 ABCC7 p.Arg1158* ABCC7 p.Gly149* 9 p.[F508del]/[c.3849+10 kb CNT] 2 p.[F508del]+[R1158X] 1 p.[F508del]+[G149X] 1 c. Login to comment 124 ABCC7 p.Ser549Asn 1 p.[S549N]+[?] Login to comment 125 ABCC7 p.Leu183Ile 2 p.[L183I]+[?] Login to comment 126 ABCC7 p.Arg352Gln 1 p.[R352Q]+[?] Login to comment 144 ABCC7 p.Gly149* p.G149X is a nonsense mutation resulting from the substitution of guanine by thymidine at the nucleotide position 577. Login to comment 148 ABCC7 p.Gly149* He was compound heterozygous for p.F508del with p.G149X and had meconium ileus, lower respiratory tract infections (LRTI) and severe FTT. Login to comment 149 ABCC7 p.Leu183Ile p.L183I is a substitution of cytosine by adenosine at the nucleotide position 679, which changes the amino acid 183 to isoleucine from leucine. Login to comment 162 ABCC7 p.Ser549Asn This should be followed by screening for the other three common mutations, p.S549N, c.3849+10 kb CNT and c.1161delC identified in this study. Login to comment