ABCMdb

PMID: 16075239

Kostuch M, Klatka J, Semczuk A, Wojcierowski J, Kulczycki L, Oleszczuk J
Analysis of most common CFTR mutations in patients affected by nasal polyps.
Eur Arch Otorhinolaryngol. 2005 Dec;262(12):982-6. Epub 2005 Jun 17., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* Forty-four patients affected by nasal polyps were admitted to the Department of Otolaryngology, Lublin University School of Medicine, Lublin, Poland, and screened for the most-commonly identified CFTR mutations [DF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DI507] by applying the INNO-LIPA CF2 test strips. Login to comment 24 ABCC7 p.Gly551Asp Previously, it has been suggested [9, 19] that nasal polyps may be associated with the specific genotypes of CF patients, those homozygous for mutation DF508 and DF508/G551D, in particular. Login to comment 48 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* Using the INNO-LIPA CF2 test strips, it is possible to detect eight mutations simultaneously within the CFTR gene: DF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DI507 [14]. Login to comment 73 ABCC7 p.Gly551Asp As reported previously by Kingdom and co-workers [19], CF patients who had undergone surgery for nasal polyps were characterized by a higher prevalence of the DF508/DF508 and DF508/ G551D genotypes compared with the control population (57.5 vs. 49.9%, P =0.01, and 12 vs. 8%, P =0.05, respectively). Login to comment 83 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* Positive bands are seen for wild-types [DF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D and R553X], but the only positive band for mutant types is DF508 this mutation reported in the control subjects (see Results). Login to comment 85 ABCC7 p.Gly551Asp It has been previously suggested that individuals without CF, but with nasal polyps, tend to develop the CF mutation G551D [8]. Login to comment 86 ABCC7 p.Arg117His In another study, Irving et al. [15] detected three carriers of CFTR mutations (two DF508 and one R117H) screening a group of 55 adults with severe nasal polyps, who had no other clinical features that might allow for the diagnosis of cystic fibrosis. Login to comment 94 ABCC7 p.Gly551Asp As an example, a case report of a 35-year-old man suffering from nasal polyps, sinusitis, bronchial asthma and intolerance of acetysal- icylic acid for 19 years revealed the CFTR mutation G551D [22]. Login to comment 97 ABCC7 p.Glu831* They are compound heterozygotes within the severe CFTR mutation E831X and harbored a novel mutation, 591del18. Login to comment 99 ABCC7 p.Gly551Asp Currently, we are not aware of any further CFTR mutations in patients with nasal polyps, including G551D. Login to comment 101 ABCC7 p.Arg117His The existence of other CFTR alterations (for example novel in-frame mutation 591del18 or mutation R117H), not analyzed herein, may also be combined with a normal CFTR allele on the other chromosome. Login to comment