PMID: 12151438

Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens.
Hum Reprod. 2002 Aug;17(8):2066-72., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:20:938
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:20:351
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12151438:20:779
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:20:1924
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12151438:20:924
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly1244Glu
X
ABCC7 p.Gly1244Glu 12151438:20:1998
status: NEW
view ABCC7 p.Gly1244Glu details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12151438:20:650
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12151438:20:615
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 12151438:20:2116
status: NEW
view ABCC7 p.Trp1316* details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 12151438:20:695
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12151438:20:2101
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:20:952
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12151438:20:1702
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:20:2034
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 12151438:20:1939
status: NEW
view ABCC7 p.Ser1251Asn details
ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 12151438:20:755
status: NEW
view ABCC7 p.Arg352Gln details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 12151438:20:405
status: NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Glu585*
X
ABCC7 p.Glu585* 12151438:20:1111
status: NEW
view ABCC7 p.Glu585* details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:20:606
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 12151438:20:859
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 12151438:20:850
status: NEW
view ABCC7 p.Val520Phe details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12151438:20:271
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 12151438:20:364
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12151438:20:966
status: NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 12151438:20:458
status: NEW
view ABCC7 p.Arg117Leu details
ABCC7 p.Thr338Ile
X
ABCC7 p.Thr338Ile 12151438:20:681
status: NEW
view ABCC7 p.Thr338Ile details
ABCC7 p.Met1101Lys
X
ABCC7 p.Met1101Lys 12151438:20:1661
status: NEW
view ABCC7 p.Met1101Lys details
ABCC7 p.Arg1070Gln
X
ABCC7 p.Arg1070Gln 12151438:20:1629
status: NEW
view ABCC7 p.Arg1070Gln details
ABCC7 p.Ser1235Arg
X
ABCC7 p.Ser1235Arg 12151438:20:1812
status: NEW
view ABCC7 p.Ser1235Arg details
ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12151438:20:1586
status: NEW
view ABCC7 p.Arg1066Cys details
ABCC7 p.Ser1255*
X
ABCC7 p.Ser1255* 12151438:20:2044
status: NEW
view ABCC7 p.Ser1255* details
ABCC7 p.Ser945Leu
X
ABCC7 p.Ser945Leu 12151438:20:1422
status: NEW
view ABCC7 p.Ser945Leu details
ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 12151438:20:995
status: NEW
view ABCC7 p.Gln552* details
ABCC7 p.Arg1283Met
X
ABCC7 p.Arg1283Met 12151438:20:2008
status: NEW
view ABCC7 p.Arg1283Met details
ABCC7 p.Lys710*
X
ABCC7 p.Lys710* 12151438:20:1253
status: NEW
view ABCC7 p.Lys710* details
ABCC7 p.Tyr563Asn
X
ABCC7 p.Tyr563Asn 12151438:20:1129
status: NEW
view ABCC7 p.Tyr563Asn details
ABCC7 p.Gln890*
X
ABCC7 p.Gln890* 12151438:20:1431
status: NEW
view ABCC7 p.Gln890* details
ABCC7 p.Trp1089*
X
ABCC7 p.Trp1089* 12151438:20:1650
status: NEW
view ABCC7 p.Trp1089* details
ABCC7 p.Arg75*
X
ABCC7 p.Arg75* 12151438:20:316
status: NEW
view ABCC7 p.Arg75* details
ABCC7 p.Leu1077Pro
X
ABCC7 p.Leu1077Pro 12151438:20:1618
status: NEW
view ABCC7 p.Leu1077Pro details
ABCC7 p.Gly480Cys
X
ABCC7 p.Gly480Cys 12151438:20:877
status: NEW
view ABCC7 p.Gly480Cys details
ABCC7 p.Ser1196*
X
ABCC7 p.Ser1196* 12151438:20:1836
status: NEW
view ABCC7 p.Ser1196* details
ABCC7 p.Ile336Lys
X
ABCC7 p.Ile336Lys 12151438:20:747
status: NEW
view ABCC7 p.Ile336Lys details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 12151438:20:301
status: NEW
view ABCC7 p.Glu60* details
ABCC7 p.Arg560Lys
X
ABCC7 p.Arg560Lys 12151438:20:1069
status: NEW
view ABCC7 p.Arg560Lys details
ABCC7 p.Arg553Gly
X
ABCC7 p.Arg553Gly 12151438:20:1060
status: NEW
view ABCC7 p.Arg553Gly details
ABCC7 p.Thr360Lys
X
ABCC7 p.Thr360Lys 12151438:20:716
status: NEW
view ABCC7 p.Thr360Lys details
ABCC7 p.Gln493Arg
X
ABCC7 p.Gln493Arg 12151438:20:886
status: NEW
view ABCC7 p.Gln493Arg details
ABCC7 p.Tyr563Asp
X
ABCC7 p.Tyr563Asp 12151438:20:1120
status: NEW
view ABCC7 p.Tyr563Asp details
ABCC7 p.Gln1238*
X
ABCC7 p.Gln1238* 12151438:20:1802
status: NEW
view ABCC7 p.Gln1238* details
ABCC7 p.Cys524*
X
ABCC7 p.Cys524* 12151438:20:868
status: NEW
view ABCC7 p.Cys524* details
ABCC7 p.Gln359Lys
X
ABCC7 p.Gln359Lys 12151438:20:710
status: NEW
view ABCC7 p.Gln359Lys details
ABCC7 p.Ser364Pro
X
ABCC7 p.Ser364Pro 12151438:20:771
status: NEW
view ABCC7 p.Ser364Pro details
ABCC7 p.Gly330*
X
ABCC7 p.Gly330* 12151438:20:763
status: NEW
view ABCC7 p.Gly330* details
ABCC7 p.Ala559Thr
X
ABCC7 p.Ala559Thr 12151438:20:1034
status: NEW
view ABCC7 p.Ala559Thr details
ABCC7 p.Lys1177Arg
X
ABCC7 p.Lys1177Arg 12151438:20:1846
status: NEW
view ABCC7 p.Lys1177Arg details
ABCC7 p.Ala561Glu
X
ABCC7 p.Ala561Glu 12151438:20:1102
status: NEW
view ABCC7 p.Ala561Glu details
ABCC7 p.Arg1070Pro
X
ABCC7 p.Arg1070Pro 12151438:20:1691
status: NEW
view ABCC7 p.Arg1070Pro details
ABCC7 p.Trp1282Arg
X
ABCC7 p.Trp1282Arg 12151438:20:2024
status: NEW
view ABCC7 p.Trp1282Arg details
Given the frequency of CF mutations, especially in the Caucasian population ( in 25), and the common request by CBAVD men to sire their own offspring by using surgical Table I. The 100 most common cystic fibrosis mutations listed by exon Mutationa Exonb Frequency (%)c G85E 3 0.1 394delTT 3 Swedish E60X 3 Belgium R75X 3 405ϩ1G→A Int 3 R117H 4 0.30 Y122X 4 French 457TAT→G 4 Austria I148T 4 Canada (French Canadian) 574delA 4 444delA 4 R117L 4 621ϩ1G→T Int 4 0.72 711ϩ1G→T Int 5 Ͼ0.1 712-1G→T Int 5 711ϩ5G→A Int 5 Italy (Caucasian) L206W 6a R347P 7 0.24 1078delT 7 Ͼ0.1 R334W 7 Ͼ0.1 1154InsTC 7 T338I 7 Italy R347H 7 Turkey Q359K/T360K 7 Israel (Georgian Jews) I336K 7 R352Q 7 G330X 7 S364P 7 A455E 9 0.20 I507 10 0.21 F508 10 66.02 1609delCA 10 Spain (Caucasian) V520F 10 Q493X 10 C524X 10 G480C 10 Q493R 10 1717-1G→A Int 10 0.58 R553X 11 0.73 G551D 11 1.64 G542X 11 2.42 R560T 11 Ͼ0.1 S549N 11 Q552X 11 Italy S549I 11 Israel (Arabs) A559T 11 African American R553G 11 R560K 11 1812-1G→A Int 11 A561E 12 E585X 12 Y563D 12 Y563N 12 1898ϩ1G→A Int 12 0.22 1898ϩ1G→C Int 12 2183AA→G 13 Italian 2184delA 13 Ͻ0.1 K710X 13 2143delT 13 Moscow (Russian) 2184InsA 13 1949del84 13 Spain (Spanish) 2176InsC 13 2043delG 13 2307insA 13 2789ϩ5G→A Int 14b Ͼ0.1 2869insG 15 S945L 15 Q890X 15 3120G→A 16 2067 Table I. continued Mutationa Exonb Frequency (%)c 3120ϩ1G→A Int 16 African American 3272-26A→G Int 17a R1066C 17b Portugal (Portugese) L1077P 17b R1070Q 17b Bulgarian W1089X 17b M1101K 17b Canada (Hutterite) R1070P 17b R1162X 19 0.29 3659delC 19 Ͼ0.1 3849G→A 19 3662delA 19 3791delC 19 3821delT 19 Russian Q1238X 19 S1235R 19 France, South S1196X 19 K1177R 19 3849ϩ10kbC→T Int 19 0.24 3849ϩ4A→G Int 19 W1282X 20 1.22 S1251N 20 Dutch, Belgian 3905insT 20 Swiss, Acadian, Amish G1244E 20 R1283M 20 Welsh W1282R 20 D1270N 20 S1255X 20 African American 4005ϩ1G→A Int 20 N1303K 21 1.34 W1316X 21 aMutations were chosen according to their frequencies (Cystic Fibrosis Genetic Analysis Consortium, 1994; Zielenski and Tsui, 1995; Estivill et al., 1997). Login to comment
34 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:34:74
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:34:162
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:34:81
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12151438:34:107
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12151438:34:66
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:34:59
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12151438:34:137
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12151438:34:183
status: NEW
view ABCC7 p.Arg560Thr details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 12151438:34:268
status: NEW
view ABCC7 p.Arg117Leu details
ABCC7 p.Arg1283Met
X
ABCC7 p.Arg1283Met 12151438:34:238
status: NEW
view ABCC7 p.Arg1283Met details
ABCC7 p.Arg560Lys
X
ABCC7 p.Arg560Lys 12151438:34:261
status: NEW
view ABCC7 p.Arg560Lys details
ABCC7 p.Arg1283Lys
X
ABCC7 p.Arg1283Lys 12151438:34:246
status: NEW
view ABCC7 p.Arg1283Lys details
ABCC7 p.Arg553Gly
X
ABCC7 p.Arg553Gly 12151438:34:254
status: NEW
view ABCC7 p.Arg553Gly details
The mutations in the 25 mutation panel were: ∆F508, G542X, N1303K, G551D, W1282X, 1717-1G→A, R553X, 621ϩ1G→T, R1162X, 2183AA→G, R117H, ∆I507, R560T, 3849ϩ10kbC→T, S549N, S549I, S549R, R1283M, R1283K, R553G, R560K, R117L, 1774delCT, 1811ϩ1G→C, and 4006-61del14. Login to comment
35 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:35:233
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:35:304
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12151438:35:362
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:35:240
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 12151438:35:266
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12151438:35:376
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 12151438:35:355
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12151438:35:225
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:35:218
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 12151438:35:296
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 12151438:35:514
status: NEW
view ABCC7 p.Ile148Thr details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 12151438:35:349
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 12151438:35:369
status: NEW
view ABCC7 p.Arg560Thr details
ACMG 25 mutation panel (ACMG25): The following mutations are the recommended core mutations for general population CF carrier screening by American College of Medical Genetics (ACMG) (Grody, et al 2001): ∆F508, G542X, N1303K, G551D, W1282X, 1717-1G→A, R553X, 621ϩ1G→T, R1162X, R117H, ∆I507, 1898ϩ1G→A, G85E, R347P, A455E, R560T, R334W, 3849ϩ10kbC→T, 3659delC, 1078delT, 2789ϩ5G→A, 711ϩ1G→T, 2184delA, 3120ϩ1G→A and I148T. Login to comment
76 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:76:129
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:76:84
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:76:106
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:76:152
status: NEW
view ABCC7 p.Leu206Trp details
After the 5T allele, the relative frequent mutations with two to four alleles were: R117H (four alleles), W1282X (four alleles), G551D (three alleles), L206W (three alleles) and D1270 (two alleles). Login to comment
83 ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 12151438:83:161
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Arg1066Cys
X
ABCC7 p.Arg1066Cys 12151438:83:171
status: NEW
view ABCC7 p.Arg1066Cys details
Matrix-assisted laser desorption ionization-time of flight mass spectra for multiplex primer oligonucleotide base extension reactions of mutations ∆F508, Q493X and R1066C. Login to comment
86 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:86:261
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:86:228
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12151438:86:444
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:86:244
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12151438:86:456
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12151438:86:293
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:86:277
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:86:388
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:86:359
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Gln890*
X
ABCC7 p.Gln890* 12151438:86:468
status: NEW
view ABCC7 p.Gln890* details
CFTR mutations in 92 men with congenital bilateral absence of vas deferens Mutations CFTR mutation panels CF25 CF25 ϩ 5T ACMG25 ACMG25 ϩ 5T CF100 Mutations detected in ∆F508 39 39 39 39 39 CF25 mutation panel R117H 4 4 4 4 4 W1282X 4 4 4 4 4 G551D 3 3 3 3 3 G542X 1 1 1 1 1 N1303K 1 1 1 1 1 IVS8-polyT IVS8-5T 33 33 33 Additional mutations L206W 3 detected not in CF25 D1270N 2 mutation panel 1154InsTC 1 3272-26A→G 1 A455E 1 1 1 R334W 1 1 1 Q890X 1 Total 14 52 85 54 87 95 respectively, in the total number of patients with at least one mutation. Login to comment
91 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:91:260
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:91:493
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:91:535
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12151438:91:309
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 12151438:91:911
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:91:199
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:91:584
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12151438:91:603
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 12151438:91:921
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 12151438:91:559
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:91:245
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:91:517
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:91:376
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:91:383
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:91:838
status: NEW
view ABCC7 p.Asp1270Asn details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:91:288
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:91:365
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:91:805
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Gln890*
X
ABCC7 p.Gln890* 12151438:91:354
status: NEW
view ABCC7 p.Gln890* details
ABCC7 p.Gln890*
X
ABCC7 p.Gln890* 12151438:91:831
status: NEW
view ABCC7 p.Gln890* details
CFTR genotypes in 92 men with congenital bilateral absence of vas deferens Genotypesa CFTR mutation panelsb CF25 CF25 ϩ 5T ACMG25 ACMG25 ϩ 5T CF100 Two mutations ∆F508/5T 16 16 16 W1282X/5T 4 4 4 ∆F508/R117Hc 3 3 3 3 3 G542X/5T 1 1 1 G551D/5T 1 1 1 ∆F508/L206W 2 ∆F508/A455E 1 1 1 ∆F508/3272-26A→G 1 Q890X/5T 1 L206W/5T 1 D1270N/D1270N 1 5T/5T 1 1 1 Sub-total 3 26 4 27 33 One mutation ∆F508/ϩ 36 20 35 19 16 5T/ϩ 9 9 7 G551D/ϩ 3 2 3 2 2 G542X/ϩ 1 1 R117H/ϩ 1 1 1 1 1 N1303K/ϩ 1 1 1 1 1 W1282X/ϩ 4 4 R334W/ϩ 1 1 1 1154InsTC/ϩ 1 Sub-total 46 33 46 33 29 Total (%) 49 (53.3) 59 (64.1) 50 (54.3) 60 (65.2) 62 (67.4) No mutation (%) 43 (46.7) 33 (35.9) 42 (45.7) 32 (34.8) 30 (32.6) aMutations L206W, 3272-26A→G, Q890X, D1270N, 1154InsTC and 5T are not in either CF25 and ACMG25 panels, while A455E and R334W are not in CF25, but are part of ACMG25 panel. Login to comment
93 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12151438:93:288
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:93:318
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 12151438:93:303
status: NEW
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bThe increase in the number of patients with two mutations under CF25ϩ5T, ACMG25ϩ5T and CF100, compared with CF25 and ACMG25, was due to identification of a second mutation and reflected by the reduction of the number of patients with one mutation (e.g. ∆F508/ϩ, G551D/ϩ, G542X/ϩ, W1282X/ϩ). Login to comment
97 ABCC7 p.Asp1270Asn
X
ABCC7 p.Asp1270Asn 12151438:97:27
status: NEW
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Two homozygotes for 5T and D1270N were also detected. Login to comment
100 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:100:58
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12151438:100:75
status: NEW
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Two relatively frequent compound heterozygotes were F508/ R117H (3/33) and W1282X/5T (4/33). Login to comment
119 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:119:39
status: NEW
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The compound heterozygote ∆F508/R117H, previously reported to occur commonly in CBAVD patients (Dork et al., 1997), was also a frequent genotype (3/33) in this study. Login to comment
120 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:120:18
status: NEW
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It was noted that R117H occurred on two chromosomal backgrounds, one carrying a 5T allele in CF patients and the other carrying a 7T allele in CBAVD patients, when the other chromosome carries a severe mutation such as ∆F508 (Kiesewetter et al., 1993). Login to comment
123 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:123:74
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:123:280
status: NEW
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Although it was not confirmed, our results indicate that ∆F508 and R117H were on chromosome backgrounds of 9T and 7T respectively, because at least one 9T allele was seen in each one of the 41 patients having a ∆F508 mutation, a 7T in each of the four patients with R117H mutation. Login to comment
125 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12151438:125:19
status: NEW
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The association of R117H in cis with a 5T allele results in CF when patients carry in trans ∆F508 or one of the severe mutations, and probably represents a general theme that a splicing mutation such as 5T, in cis with a mild mutation, can aggravate that mild mutation. Login to comment
127 ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:127:0
status: NEW
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L206W is another mild mutation reported with relatively high frequency in both CF and CBAVD patients (Chillon et al., 1995; Mak et al., 1999; Claustres et al., 2000) and which we noted in three compound heterozygotes, two with ∆F508 and one with 5T. Login to comment
128 ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:128:16
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:128:86
status: NEW
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ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 12151438:128:143
status: NEW
view ABCC7 p.Leu206Trp details
It appears that L206W is associated in cis with the 9T allele since both ∆F508/L206W patients have a homozygous 9T background, while 5T/L206W exists in a 5T/9T background. Login to comment