ABCMdb

PMID: 11115444

Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A
Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.
Chest. 2000 Dec;118(6):1591-7., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Gly551Asp ABCC7 p.Ser1235Arg Three patients were homozygous or double heterozygous (⌬F508/⌬F508, ⌬F508/3849 ؉ 10 kb C3T, S1235R/G551D). Login to comment 81 ABCC7 p.Gly551Asp ABCC7 p.Ser1235Arg One patient carried homozygous ⌬F508, and two patients carried compound heterozygous (⌬F508/3849 ϩ 10 kb C3T, S1235R/G551D). Login to comment 82 ABCC7 p.Arg75* ABCC7 p.Arg75* ABCC7 p.Asp1270His ABCC7 p.Asp1270His Patient 3 was heterozygous for the mutations R75X and D1270H; however, the familial analysis revealed that the mutations R75X and D1270H were both carried by the paternal allele. Login to comment 87 ABCC7 p.Ser1235Arg Patient 9 carried the 5T allele and the mild mutation S1235R on the same chromosome. Login to comment 92 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Ser1235Arg ABCC7 p.Arg117Cys ABCC7 p.Gly91Arg ABCC7 p.Arg75* ABCC7 p.Asp1270His Genotype Poly T 1 -/- 7T/7T 2 R117C/- 7T/7T 3 R75X-D1270H/- 7T/7T 4 -/- 7T/7T 5 G91R/- 7T/5T 6 ⌬F508/- 7T/9T 7 -/- 7T/7T 8 -/- 7T/7T 9 S1235R/G551D 5T/7T 10 ⌬F508/- 9T/9T 11 7T/7T 12 ⌬F508/⌬F508 9T/9T 13 ⌬F508/- 7T/9T 14 -/- 7T/7T 15 ⌬F508/- 7T/9T 16 -/- 7T/5T 17 -/- 7T/7T 18 -/- 7T/7T 19 -/- 7T/9T 20 ⌬F508/- 7T/9T 21 -/- 7T/7T 22 W1282X/- 7T/5T 23 -/- 7T/7T 24 ⌬F508/3849 ϩ 10 kb C 3 T 7T/7T 1594 Clinical Investigations reported in the general population (frequency of the 5T allele in the general population, 5.2%).26 Based on the results of DNA analysis and according to the consensus statement on the diagnosis of CF, three patients (patients 9, 12, and 24) met the criteria of both respiratory manifestations and identification of two CF mutations.21 For patient 6, there was a diagnostic dilemma. Login to comment 98 ABCC7 p.Arg75* ABCC7 p.Asp1270His Results indicated that 15 (of 48) chromosomes had a known mutation in CFTR gene, with 1 chromosome bearing two mutations (R75X and D1270H). Login to comment 99 ABCC7 p.Gly551Asp ABCC7 p.Ser1235Arg It is interesting to point out that two patients were compound heterozygous (⌬F508/ 3849 ϩ 10 kb C3T, S1235R/G551D), and one was homozygous ⌬F508. Login to comment