ABCMdb

PMID: 21257352

Salvatore D, Buzzetti R, Baldo E, Forneris MP, Lucidi V, Manunza D, Marinelli I, Messore B, Neri AS, Raia V, Furnari ML, Mastella G
An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea.
J Cyst Fibros. 2011 Mar;10(2):71-85. Epub 2011 Jan 22., [PubMed]

Sentences

No. Mutations Sentence Comment

1219 ABCC7 p.Gly85Glu Valle et al. [6] reported an estimated CF incidence of 1:11,252 in the population of Ecuador and one of the highest incidences of G85E in the world (8.9%). Login to comment 1246 ABCC7 p.Trp846* Limitations of both the studies are the very Table 2 Genetic studies. Year Registry Patients Main results 1st author Ref 2006 USA-CFF 15,651 Prognostic value (mortality) of CFTR genotype in subjects with high risk genotype vs. low risk one McKone [22] 2005 France 39 3849+10KbC-NT 88 2789+5 G-NA Genotype-phenotype correlation for two rare mutations (3849+10KbCNT e 2789+5 GNA) Duguépèroux [30] 2005 UKCFD 50 Asian 143 Caucasian Genotype - phenotype correlation in the Asian population living in the UK McCormick [24] 2004 France 3220 (114 long survival) Genotype-phenotype correlation in long-term survivors Badet [26] 2004 France 8228 alleles Comparison incidence and clinical CF characteristics for the 5 most common mutations in France Duguépèroux [28] 2004 France 56 Genotype/phenotype correlation in patients of the Reunion Islands (Indian Ocean) Duguépèroux [29] 2004 USA-CFF 17,871 Correlation between pancreatitis and genotype Maisonneuve [34] 2003 USA-CFF 17,853 Comparison of mortality among patients with the 11 most common mutations in heterozygosis with F508del and F508del homozygotes McKone [21] 2002 France 20 Genotype-phenotype correlation for the W846X mutation Dugueperoux [27] 2002 USA-CFF 2605 Frequency of the 25 main CF mutations for a strategy of prenatal diagnosis Palomaki [23] 2001 Europe-ERCF 8963 Comparison of the frequency and severity of the clinical manifestations in patients with different classes of mutations Koch [20] 2000 France 2666 Frequency and distribution of the mutations in the 22 regions of France Guilloud-Bataille [25] 1999 France 2666 (369 with MI) Allele and genotype frequencies in patients with and without meconium ileus (MI) Feingold [32] 1998 France 10,988 USA, 2076 Canada 2666 Francia Distribution of F508del/F508del, F508del/x, x/x in US, Canada and France Feingold [19] 1996 USA-CFF 20,198 (815 with polyposis) 19,383 controls Clinical characteristics and genotype of CF patients with nasal polyposis treated surgically Kingdom [31] imprecise diagnostic definition of pancreatic insufficiency (PI) and the selection bias: the patients who live longer are also those who undergo genotype analysis more easily. Login to comment 1256 ABCC7 p.Tyr122* ABCC7 p.Glu60* Finally, 4 studies evaluated the genotype-phenotype correlation for rare mutations (E60X, W486X, Y122X, 3849+10KbCNT and 2789+5 GNA) [27-30]. Login to comment 1261 ABCC7 p.Gly551Asp Mutations and organ-specific aspects Kingdom et al. [31] studied CF patients with nasal polyposis treated surgically and disclosed that the prevalence of F508del homozygosis and F508del/G551D heterozygosis is high among these subjects; however, no indication is derived about the particular genotype in patients with nasal polyposis. Login to comment 1264 ABCC7 p.Trp1282* ABCC7 p.Gly542* The 3 most common mutations associated with MI were F508del, G542X, and W1282X. Login to comment 1265 ABCC7 p.Gly551Asp ABCC7 p.Arg117His G551D and R117H mutations appeared to be negatively correlated with MI. Login to comment 1266 ABCC7 p.Gly551Asp It is interesting to observe the presumptive organ-specific protective effect of the G551D mutation, which is severe with respect to the channel function of CFTR and pancreatic function, but negatively correlated to MI [32] and severity of lung disease, compared to F508del homozygotes [33]. Login to comment 1269 ABCC7 p.Arg334Trp R334W, a mild mutation that is usually associated with pancreatic sufficiency, was associated with a 25.8 higher risk of pancreatitis. Login to comment