ABCMdb

PMID: 10228103

Jorissen MB, De Boeck K, Cuppens H
Genotype-phenotype correlations for the paranasal sinuses in cystic fibrosis.
Am J Respir Crit Care Med. 1999 May;159(5 Pt 1):1412-6., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Ala455Glu The mutation ⌬F508, associated with pancreatic insufficiency and diagnosis at younger age, is classified as a "severe" mutation (6), whereas others such as R117H and A455E are considered to be "mild" mutations. Login to comment 17 ABCC7 p.Ala455Glu A455E also correlated with better lung function (7); a correlation between ⌬F508 and lung function was not found (8, 9). Login to comment 23 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp They reported a significantly higher prevalence of the ⌬F508/⌬F508 and ⌬F508/G551D genotypes in patients with nasal polyps requiring surgery: 57.5% versus 49.9% and 12% versus 8%, respectively. Login to comment 93 ABCC7 p.Arg117His ABCC7 p.Ala455Glu Three of them had a mild mutation (R117H or A455E) and were clinically classified as class 0 (n ϭ 2) or class 1 (n ϭ 1). Login to comment 94 ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* The fourth patient had undergone sinus surgery and was ⌬F508 negative (G542X/unidentified). Login to comment 95 ABCC7 p.Gly542* The fourth patient had undergone sinus surgery and was DF508 negative (G542X/unidentified). Login to comment 120 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser1251Asn ABCC7 p.Tyr1092* ABCC7 p.Asp1152His ABCC7 p.Trp401* ABCC7 p.Trp1310* ABCC7 p.Cys276* of Patients in Surgical Group ⌬F508 Genotype Homozygosity 69 61 22 Compound heterozygosity 33 29 5 Negative 11 10 1 Mutations ⌬F508 171 75.7 27 Non-⌬F508 55 24.3 6 R117H (4) C276X (1) 394delT (1) W401X (2,† ) A455E (1) G542X (4,‡ ) G551D (1) R553X (1) G628R(G→C) (1) Y1092X (1) D1152H (1) S1251N (1) W1282X (3) N1303K (8) W1310X (1) 1717-1G→A (3,† ) 1898ϩ1G→C (1) 2183AA-G (3,†† ) 3659delC (2) 3272-26A→G (2,† ) 4218-insT (2) unknown (11,‡ ) * The genotype and mutations are given for the 113 patients with CF. Login to comment 121 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser1251Asn ABCC7 p.Tyr1092* ABCC7 p.Asp1152His ABCC7 p.Trp401* ABCC7 p.Trp1310* ABCC7 p.Cys276* of Patients in Surgical Group DF508 Genotype Homozygosity 69 61 22 Compound heterozygosity 33 29 5 Negative 11 10 1 Mutations DF508 171 75.7 27 Non-DF508 55 24.3 6 R117H (4) C276X (1) 394delT (1) W401X (2,ߤ ) A455E (1) G542X (4,ߥ ) G551D (1) R553X (1) G628R(G࢐C) (1) Y1092X (1) D1152H (1) S1251N (1) W1282X (3) N1303K (8) W1310X (1) 1717-1G࢐A (3,ߤ ) 189811G࢐C (1) 2183AA-G (3,ߤߤ ) 3659delC (2) 3272-26A࢐G (2,ߤ ) 4218-insT (2) unknown (11,ߥ ) * The genotype and mutations are given for the 113 patients with CF. Login to comment