PMID: 25304080

Dell'Edera D, Benedetto M, Gadaleta G, Carone D, Salvatore D, Angione A, Gallo M, Milo M, Pisaturo ML, Di Pierro G, Mazzone E, Epifania AA
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
J Med Case Rep. 2014 Oct 10;8:339. doi: 10.1186/1752-1947-8-339., [PubMed]
Sentences
No. Mutations Sentence Comment
43 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:43:23
status: NEW
view ABCC7 p.Ile148Thr details
Nevertheless, mutation I148T, at first classified as a mutation, now is considered an 'innocent` polymorphism, able to be pathogenetic only if present in the same gene (on the same chromosome) with another polymorphism (3199del6). Login to comment
44 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:44:51
status: NEW
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Hence it is necessary, in presence of polymorphism I148T, to detect the presence of polymorphism 3199del6. Login to comment
45 ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:45:68
status: NEW
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The polymorphism 3199del6 was not detected in all patients with the I148T variant. Login to comment
47 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 25304080:47:191
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 25304080:47:309
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 25304080:47:203
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 25304080:47:413
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 25304080:47:232
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25304080:47:259
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:47:246
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 25304080:47:296
status: NEW
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ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 25304080:47:283
status: NEW
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The molecular analysis of the CFTR gene revealed that the two Table 1 Number of subjects tested who were carriers of the cystic fibrosis transmembrane regulator gene Mutation Men Women Total G551D 1 2 3 R553X 0 1 1 F508del 35 32 67 N1303K 7 8 15 I148T 4 9 13 G542X 3 6 9 DI507 2 0 2 L1077P 0 2 2 D1152H 1 6 7 W1282X 2 0 2 2183 AA>G 3 0 3 1259insA 0 1 1 4016insT 1 0 1 I507del 1 0 1 2789+5G>A 1 0 1 4382delA 0 2 2 G1244E 1 0 1 621+3A>G 1 0 1 Total 63 69 132 Figure 1 76 patients with cystic fibrosis and positive sweat test, all have two genes mutated. Login to comment
49 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25304080:49:83
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25304080:49:166
status: NEW
view ABCC7 p.Gly542* details
brothers, aged 26 and 29 years old respectively, were both 'compound heterozygotes G542X/D1152H`, while the third one, aged 37 years old, was 'compound heterozygotes G542X/E831X`. Login to comment
59 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 25304080:59:1146
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 25304080:59:288
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 25304080:59:506
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 25304080:59:614
status: NEW
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ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 25304080:59:632
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 25304080:59:804
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 25304080:59:384
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 25304080:59:235
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25304080:59:262
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 25304080:59:342
status: NEW
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ABCC7 p.Arg74Trp
X
ABCC7 p.Arg74Trp 25304080:59:1287
status: NEW
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ABCC7 p.Glu831*
X
ABCC7 p.Glu831* 25304080:59:1185
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:59:758
status: NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:59:777
status: NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 25304080:59:710
status: NEW
view ABCC7 p.Glu585* details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 25304080:59:917
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 25304080:59:720
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 25304080:59:374
status: NEW
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ABCC7 p.Leu1065Pro
X
ABCC7 p.Leu1065Pro 25304080:59:686
status: NEW
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ABCC7 p.Arg1158*
X
ABCC7 p.Arg1158* 25304080:59:524
status: NEW
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ABCC7 p.Ser1455*
X
ABCC7 p.Ser1455* 25304080:59:1317
status: NEW
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ABCC7 p.Ile1005Arg
X
ABCC7 p.Ile1005Arg 25304080:59:832
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 25304080:59:739
status: NEW
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ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 25304080:59:1410
status: NEW
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ABCC7 p.Leu558Ser
X
ABCC7 p.Leu558Ser 25304080:59:871
status: NEW
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ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 25304080:59:535
status: NEW
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ABCC7 p.Ala349Val
X
ABCC7 p.Ala349Val 25304080:59:1098
status: NEW
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ABCC7 p.Gly178Arg
X
ABCC7 p.Gly178Arg 25304080:59:729
status: NEW
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ABCC7 p.Asp110His
X
ABCC7 p.Asp110His 25304080:59:907
status: NEW
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ABCC7 p.Asp579Gly
X
ABCC7 p.Asp579Gly 25304080:59:596
status: NEW
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ABCC7 p.Trp1063*
X
ABCC7 p.Trp1063* 25304080:59:896
status: NEW
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ABCC7 p.His139Arg
X
ABCC7 p.His139Arg 25304080:59:1240
status: NEW
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ABCC7 p.Ile502Thr
X
ABCC7 p.Ile502Thr 25304080:59:554
status: NEW
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ABCC7 p.Arg709Asn
X
ABCC7 p.Arg709Asn 25304080:59:1088
status: NEW
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ABCC7 p.Tyr849*
X
ABCC7 p.Tyr849* 25304080:59:1121
status: NEW
view ABCC7 p.Tyr849* details
As mentioned before, molecular screening Table 2 Comparison between the results obtained in this study and those obtained in a previous study Castaldo et al. [14] Mutations observed in the present study F508del 55.8% (29) 48.62% (141) N1303K 3.8% (2) 9.31% (27) G542X 3.8% (2) 8.96% (26) W1282X 3.8% (2) 1.03% (3) 2183AA>G 5.8% (3) 2.76% (8) R1162X 0 0 1717-1G>A 1.9% (1) 0 T338I 0 0 R347P 0 0.69% (2) 711+5G>A 0 0 852del22 5.8% (3) 1.03% (3) 4382delA 0 0.69% (2) 1259insA 0 0.34% (1) 4016insT 0 0.34% (1) R553X 0 0.34% (1) R1158X 0 0 L1077P 0 1.03% (3) I502T 0 0 3849+10kbC>T 1.9% (1) 0.34% (1) D579G 0 0.69% (2) G1244E 3.8% (2) 0 G1349D 0 0.34% (1) 2789+5G>A 0 1.03% (3) 711+1G>T 0 0 L1065P 0 0 2522insC 0 0 E585X 0 0 G85E 0 0 G178R 0 0 D1152H 0 3.10% (9) I148T-3195del6 0 0 I148T (alone) 0 4.48% (13) R334W 0 0 DI507 0 0.69% (2) I1005R 0 0 3272-26A>G 0 0 2711delT 0 0 L558S 1.9% (1) 0.34% (1) W1063X 0 0 D110H 0 0 S549R (A>C) 1.9% (1) 0.69% (2) 2184insA 0 0 3131del22 0 0 Table 2 Comparison between the results obtained in this study and those obtained in a previous study (Continued) R709N 0 0 A349V 0 0 4015insA 0 0 Y849X 1.9% (1) 0.34% (1) G551D 0 1.03% (3) 621+3A>G 0 0.34% (1) E831X 0 0 I507del 0 0.69% (2) IVS8 TG12/t5 0 1.03% (3) H139R (A->G) 0 0.34% (1) 1248+1G>A 0 0.34% (1) R74W;V201M;D1270N 0 0.69% (2) S1455X 0 0.34% (1) dele 2,3 (21kb) 0 0.34% (1) 991del5 0 0.34% (1) UNKNOWN 7 %(4) 4.83% (14) F508C 0 0.69% (2) TOTAL 52 290 of CF is highly recommended in the USA by the National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis [17]. Login to comment
79 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 25304080:79:312
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 25304080:79:234
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 25304080:79:470
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 25304080:79:606
status: NEW
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ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 25304080:79:477
status: NEW
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ABCC7 p.Gly1349Asp
X
ABCC7 p.Gly1349Asp 25304080:79:201
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 25304080:79:398
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 25304080:79:392
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 25304080:79:445
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 25304080:79:362
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 25304080:79:265
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 25304080:79:552
status: NEW
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ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 25304080:79:491
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 25304080:79:507
status: NEW
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ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 25304080:79:195
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 25304080:79:413
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 25304080:79:338
status: NEW
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ABCC7 p.Leu1065Pro
X
ABCC7 p.Leu1065Pro 25304080:79:599
status: NEW
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ABCC7 p.Arg1158*
X
ABCC7 p.Arg1158* 25304080:79:528
status: NEW
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ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 25304080:79:545
status: NEW
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ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 25304080:79:281
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 25304080:79:568
status: NEW
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ABCC7 p.Phe508Cys
X
ABCC7 p.Phe508Cys 25304080:79:174
status: NEW
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ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 25304080:79:575
status: NEW
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ABCC7 p.Arg1066His
X
ABCC7 p.Arg1066His 25304080:79:484
status: NEW
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ABCC7 p.Gly178Arg
X
ABCC7 p.Gly178Arg 25304080:79:296
status: NEW
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ABCC7 p.Asp110His
X
ABCC7 p.Asp110His 25304080:79:189
status: NEW
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ABCC7 p.Asp579Gly
X
ABCC7 p.Asp579Gly 25304080:79:582
status: NEW
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ABCC7 p.His139Arg
X
ABCC7 p.His139Arg 25304080:79:240
status: NEW
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ABCC7 p.Ile502Thr
X
ABCC7 p.Ile502Thr 25304080:79:208
status: NEW
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ABCC7 p.Ser912*
X
ABCC7 p.Ser912* 25304080:79:522
status: NEW
view ABCC7 p.Ser912* details
The test has a sensitivity and a specificity of more than Table 3 List of 60 mutations in the cystic fibrosis transmembrane regulator gene (specificity 100%) F508del I507del F508C 621+1G>T D110H E585X G1349D I502T 1706del17 1677delTA R117H H139R 1898+1G>A 4015delA G542X 1717-1G>A Q552X 852del22 G178R 1898+3A>G G551D S549R(A>C) 2183AA>G T338I 991del5 1898+5G>T N1303K 4016insT 3849+10kb C>T R347P R334W 2184insA G85E 711+5G>A 711+1G>T 1259insA R347H 2522insC 2789+5G>A W1282X G1244E R1066H R352Q 3120+1G>A I148T 3199del6 S912X R1158X 1717-8G>A R1066C R1162X 4382delA D1152H L1077P D579G 3272-26A>G L1065P R553X PoliT: 5T, 7T, 9T 1874insT 3659delC 99%. Login to comment