ABCMdb

PMID: 12680831

Cimmino M, Cavaliere M, Nardone M, Plantulli A, Orefice A, Esposito V, Raia V
Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis.
Clin Otolaryngol Allied Sci. 2003 Apr;28(2):125-32., [PubMed]

Sentences

No. Mutations Sentence Comment

19 ABCC7 p.Arg117His ABCC7 p.Ala455Glu R117H and A455E also are considered to be `mild' mutations: they are associated with better lung function.18 Moss and King11 reported that DF508 homozygosity was found more frequently in the patients undergoing sinus surgery (58%) than in a control population (48%). Login to comment 21 ABCC7 p.Gly551Asp They reported a signi®cantly higher prevalence of the DF508/DF508 and DF508/G551D genotypes in patients with nasal polyps requiring surgery compared with the control group: 57.5% versus 49.9% and 12% versus 8% respectively. Login to comment 47 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly1244Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Ser1251Asn ABCC7 p.Ile148Thr ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Arg1158* ABCC7 p.Gln552* ABCC7 p.Glu60* Analysis of mutations in the CFTR gene as tested by the multiplex polymerase chain reaction (PCR), followed by the reverse dot-blot technique, which searches for 29 of the most frequent mutations (DF508, N1303K, G542X, W1282X, 1717±1 G-A, R553X, 2183 AA-G, DI507, G551D, R560T, 3849 10kbC > T, R1162X, 3659delC, 3905insT, G85E, 621 1GT, R117H, R347P, R334W, A455E, 2789 5GA, Q552X, S1251N, 3905insT, 394delTT, E60X, 2143delT, 2184delA, 711 5G > A), and by ASO dot-blot for the following mutations: I148T, R1158X, 4016 1T, G1244E G >A.26 Statistical analysis was performed using multivariate analysis, by forward stepwise comparison; it was done to ®nd out which of the examined characteristics could be associated (P < 0.01) to nasal polyposis. Login to comment 91 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Frequency (percentage) of compound heterozygous genotypes by nasal polyposis status in patients with cystic fibrosis Group with nasal polyposis (n 15) Comparison group (n 20) DF508/G542X 2 (13.33) 2 (10) DF508/N1303K 2 (13.33) 4 (20) DF508/AA2183G 1 (6.67) 0 DF508/IG1717 1 (6.67) 1 (5) DF508/W1282X 1 (6.67) 1 (5) DF508/unspecified 8 (53.33) 12 (60) their study group included patients with nasal polyposis that required surgery. Login to comment 117 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Gly542* Several authors9,16,17 reported that certain CFTR mutations (i.e. G551D, G542X, W1282X) are associated with severe phenotypes, particularly pancreatic insuf®ciency. Login to comment