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
X
ABCC7 p.Gln98Arg 21779199:4:187
status: NEW
view ABCC7 p.Gln98Arg details
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
X
ABCC7 p.Gln98Arg 21779199:54:159
status: NEW
view ABCC7 p.Gln98Arg details
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
X
ABCC7 p.Gln98Arg 21779199:58:75
status: NEW
view ABCC7 p.Gln98Arg details
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*
X
ABCC7 p.Gln220* 21779199:81:112
status: NEW
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ABCC7 p.Gln1291*
X
ABCC7 p.Gln1291* 21779199:81:121
status: NEW
view ABCC7 p.Gln1291* details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 21779199:81:58
status: NEW
view ABCC7 p.Gln98Arg details
ABCC7 p.Leu88*
X
ABCC7 p.Leu88* 21779199:81:135
status: NEW
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ABCC7 p.Gln1352His
X
ABCC7 p.Gln1352His 21779199:81:66
status: NEW
view ABCC7 p.Gln1352His details
ABCC7 p.Leu441Pro
X
ABCC7 p.Leu441Pro 21779199:81:80
status: NEW
view ABCC7 p.Leu441Pro details
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
X
ABCC7 p.Gln98Arg 21779199:82:6
status: NEW
view ABCC7 p.Gln98Arg details
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*
X
ABCC7 p.Gln220* 21779199:89:391
status: NEW
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ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 21779199:89:158
status: NEW
view ABCC7 p.Gln98Arg details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 21779199:89:339
status: NEW
view ABCC7 p.Gln98Arg details
ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 21779199:89:442
status: NEW
view ABCC7 p.Gln98Arg details
ABCC7 p.Gln1352His
X
ABCC7 p.Gln1352His 21779199:89:496
status: NEW
view ABCC7 p.Gln1352His details
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*
X
ABCC7 p.Gln1291* 21779199:90:25
status: NEW
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ABCC7 p.Leu88*
X
ABCC7 p.Leu88* 21779199:90:122
status: NEW
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ABCC7 p.Leu441Pro
X
ABCC7 p.Leu441Pro 21779199:90:244
status: NEW
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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
X
ABCC7 p.Gln98Arg 21779199:96:22
status: NEW
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No mutation, except p.Q98R, has repeatedly been observed in Korean CF patients in this study. Login to comment
123 ABCC7 p.Gln98Arg
X
ABCC7 p.Gln98Arg 21779199:123:87
status: NEW
view ABCC7 p.Gln98Arg details
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