PMID: 11243954

Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O
Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.
Chest. 2001 Mar;119(3):762-7., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11243954:6:179
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:6:91
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11243954:6:217
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 11243954:6:172
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11243954:6:229
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11243954:6:165
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11243954:6:186
status: NEW
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All subjects in the study were screened for the presence of 13 mutations in the CFTR gene (R117H, 621 ؉ 1G->T, R334 W, ⌬F508, ⌬I507, 1717-1G->A, G542X, R553X, G551D, R1162X, 3849 ؉ 10kbC->T, W1282X, and N1303K). Login to comment
11 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:11:260
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11243954:11:139
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11243954:11:176
status: NEW
view ABCC7 p.Arg1162* details
Results: Six patients with ABPA were found to be heterozygous for one CFTR mutation, including ⌬F508 (n ‫؍‬ 2), G542X (n ‫؍‬ 1), R1162X (n ‫؍‬ 1), 1717-1G->A (n ‫؍‬ 1), and R117H (n ‫؍‬ 1). Login to comment
42 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11243954:42:235
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:42:68
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11243954:42:306
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 11243954:42:219
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11243954:42:326
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11243954:42:204
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11243954:42:250
status: NEW
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Genomic DNA samples were screened for the following CFTR mutations: R117H/ exon 4, 621 ϩ 1G-ϾT/intron 4, R334 W/exon 7, ⌬F508/exon 10, ⌬I507/exon 10, 1717-1G-ϾA/intron 10, G542X/exon 11, R553X/ exon 11, G551D/exon 11, R1162X/exon 19, 3849 ϩ 10kbC-ϾT/ intron 19, W1282X/exon 20, and N1303K/exon 21. Login to comment
58 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:58:192
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11243954:58:113
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11243954:58:134
status: NEW
view ABCC7 p.Arg1162* details
Six patients (patients 1 to 6) were identified to carry one CFTR mutation, including ⌬F508 (n ϭ 2), G542X (n ϭ 1), R1162X (n ϭ 1), 1717-1G-ϾA (n ϭ 1), and R117H (n ϭ 1). Login to comment
78 ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 11243954:78:80
status: NEW
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One of these patients was identified as a compound heterozygote (⌬F5085/ R347H), and she was reclassified as having atypical CF. Login to comment
79 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:79:97
status: NEW
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Five patients were found to carry one CFTR mutation, including ⌬F508 in four patients and R117H in one patient. Login to comment
91 ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 11243954:91:114
status: NEW
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In the study by Miller et al,12 only one ABPA patient was identified as carrying two CFTR mutations (⌬F508/R347H). Login to comment
99 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11243954:99:188
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11243954:99:133
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11243954:99:150
status: NEW
view ABCC7 p.Arg1162* details
Sweat Chloride,† mEq/L CFTR Mutation Intron 8 Polythymidine Tract Alleles 1 17 ⌬F508 7T/9T 2 33 ⌬F508 7T/9T 3 6 G542X 7T/9T 4 38 R1162X 7T/7T 5 54 1717-1G3A 7T/7T 6 8 R117H 7T/9T 7 36 - 7T/7T 8 23 - 7T/7T 9 14 - 7T/7T 10 19 - 7T/7T 11 37 - 7T/7T 12 NA - 7T/7T 13 40 - 7T/7T 14 38 - 7T/7T 15 14 - 7T/7T 16 19 - 7T/7T 17 32 - 7T/7T 18 15 - 7T/7T 19 34 - 7T/9T 20 13 - 7T/7T 21 34 - 7T/7T *See Table 1 for expansion of abbreviation. Login to comment