ABCMdb

PMID: 21779199

Jung H, Ki CS, Koh WJ, Ahn KM, Lee SI, Kim JH, Ko JS, Seo JK, Cha SI, Lee ES, Kim JW
Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Korean J Lab Med. 2011 Jul;31(3):219-24. Epub 2011 Jun 28., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Gln98Arg Results:ThreeCFTRmutationswereidentifiedinthe2patients,includingp.Q98R,c.2052delA,andc.579+5G>A.Inananalysisof9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles). Login to comment 54 ABCC7 p.Gln98Arg RESULTS 1.Geneticanalysisofthe2Koreanpatients Two mutations in the CFTR gene were found in Patient 1: a heterozygous A to G transition in exon 4 [c.293A>G (p. Q98R)] and a heterozygous deletion of an A in exon 13 [c.2052delA (p.L728NfsX38)]. Login to comment 58 ABCC7 p.Gln98Arg Our search of the Cystic Fibrosis Mutation Database [20] showed that the p.Q98R and c.2052delA mutations have also been reported in CF patients from France. Login to comment 81 ABCC7 p.Gln220* ABCC7 p.Gln1291* ABCC7 p.Gln98Arg ABCC7 p.Leu88* ABCC7 p.Gln1352His ABCC7 p.Leu441Pro The identified mutations included 3 missense mutations (p.Q98R, p.Q1352H, and p.L441P), 3 nonsense mutations (p.Q220X, p.Q1291X, and p.L88X), 1 duplication with frameshift (c.3908dupA), 1 insertion with frameshift (c.2089-2090insA), 4 splice site mutations (c.1766+2T>C, c.3272-26A>G, c.579+5G>A, and IVS8-T5) and 2 deletion mutations (c.2052delA and c.2623-?_2751+?del). Login to comment 82 ABCC7 p.Gln98Arg The p.Q98R mutation was the only recurrently observed mutation, with a frequency of 18.8% (3/16 alleles). Login to comment 89 ABCC7 p.Gln220* ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg ABCC7 p.Gln1352His Aminoacid change Exon Nucleotide number Nucleotide change Typeof mutation Method ofdetection Familialtargetedmutationstudy Ref Father Mother Brother Sister 1 Q98R Exon4 293 A>G Missense Sequencing ND - - NA Thisstudy L728NfsX38 Exon13 2,052 delA Frameshift Sequencing ND + + NA 2 IVS4 579+5 G>A Splicing Sequencing ND ND NA NA Thisstudy 3 Q98R Exon4 293 A>G Missense Sequencing + - + - [15] Q220X Exon6a 658 C>T Nonsense Sequencing - + - - 4 Q98R Exon4 293 A>G Missense Sequencing + - NA NA [16] Q1352H Exon24 4,056 G>C Missense Sequencing - + NA NA 5 IVS12 1,766+2 T>C Splicing Sequencing + - NA NA [18] N1303KfsX6 Exon21 3,908 dupA Frameshift Sequencing - + NA NA 6 IVS17a 3,272-26 A>G Splicing Sequencing MLPA ND ND NA NA [17] Exon14a 2,623-2,751+? Login to comment 90 ABCC7 p.Gln1291* ABCC7 p.Leu88* ABCC7 p.Leu441Pro del Deletion + - NA NA 7 Q1291X Exon20 4,003 C>T Nonsense Sequencing + - + NA [14] IVS8 T5 Splicing Sequencing - + - NA 8 L88X Exon3 263 T>G Nonsense Sequencing + - NA NA [29] R697KfsX33 Exon13 2,089-2,090 insA Insertion Sequencing - + NA NA 9 L441P Exon9 1,454 T>C Missense Sequencing&DGGE ND - ND NA [19] Abbreviations:IVS,interveningsequence;MLPA,multiplexligation-dependentprobeamplification;ND,notdone;NA,notapplicable;DGGE,denaturinggradientgelelectrophoresis. Login to comment 96 ABCC7 p.Gln98Arg No mutation, except p.Q98R, has repeatedly been observed in Korean CF patients in this study. Login to comment 123 ABCC7 p.Gln98Arg In summary, we report the cases of 2 Korean CF patients with 3 known CFTR mutations (p.Q98R, c.2052delA, and c.579+5G>A), and these mutations have been submitted to the Cystic Fibrosis Mutation Database [20]. Login to comment