ABCMdb

PMID: 15738290

Dugueperoux I, De Braekeleer M
The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.
Eur Respir J. 2005 Mar;25(3):468-73., [PubMed]

Sentences

No. Mutations Sentence Comment

51 ABCC7 p.Gly1244Glu ABCC7 p.Gly542* Two genotypes accounted for almost 80% of the patients, 3849+10kbC-.T/DF508 (n527, 69.2%) and 3849+10kbC-.T/ G542X (n54, 10.3%), and two siblings shared the G1244E allele (5.2%). Login to comment 63 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly1244Glu ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser1251Asn ABCC7 p.Arg1066Cys ABCC7 p.Gly970Arg ABCC7 p.Leu558Ser Although only borderline significant, lung function was definitely better in the 3849+10kbC-.T/DF508 group (FEV1 83.0% and FVC 91.6% pred) than in the DF508 homozygote group (FEV1 59.9% TABLE 1 Genotypes identified among cystic fibrosis patients sharing the 3849+10kbC-.T or the 2789+5G-.A mutation Genotypes 3849+10kbC-.T 2789+5G-.A DI507 2 DF508 27 61 1525-1G-.A 1 1717-1G.A 1 2183AA.G 3 3129del4 1 3659delC 1 G542X 4 6 G551D 1 G970R 2 G1244E 2 L558S 1 M1V 1 N1303K 1 R347P 1 R553X 1 1 R1066C 1 S1251N 1 Unknown 1 6 Total 39 88 I. DUGUE´PE´ROUX AND M. DE BRAEKELEER MILD PHENOTYPE ASSOCIATED WITH TWO CFTR MUTATIONS c and FVC 76.9% pred). Login to comment 71 ABCC7 p.Gly542* Three genotypes accounted for almost 80% of the patients: 2789+5G-.A/DF508 (n561, 69.3%), 2789+5G-.A/G542X (n56, 6.8%) and 2789+5G- .A/2183AA-.G (n53, 3.4%). Login to comment 98 ABCC7 p.Trp1282* AUGARTEN et al. [24] previously investigated 15 CF patients carrying the 3849+10kbC-.T allele and compared their clinical status with that of an unmatched group of 57 patients who were compound heterozygous or homozygous for the DF508 or W1282X mutations. Login to comment