ABCMdb

PMID: 17020473

Nectoux J, Audrezet MP, Viel M, Leroy C, Raguenes O, Ferec C, Lesure JF, Davy N, Renouil M, Cartault F, Bienvenu T
A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.
Genet Test. 2006 Fall;10(3):208-14., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCC7 p.Gly542* p.F508del and p.G542X were previously associated with the haplotype B (rarely A, D) (Sereth et al. 1993; Cuppens et al. 1994). Login to comment 52 ABCC7 p.Gly542* ABCC7 p.Ala309Gly ABCC7 p.Val520Ile GENOTYPE OF CF PATIENTS FROM REUNION ISLAND WHO WERE FOUND TO CARRY AT LEAST ONE CFTR MUTATION-NEGATIVE ALLELE Present Patient Sex age (years) Cl-test Genotype Phenotype MUC971 F 6 87-91 p.V520I : unidentified PS-CF (bronchitis, mild disease) MUC696 M 10 37-70 c.3849 ϩ 45G l A : unidentified PS-CF (bronchitis) R105C F 82 56-106 p.A309G : unidentified PS-CF (H. influenzae colonization, bronchitis) MUC900 M 7 71-147 p.F508del : unidentified PI-CF R131C F 16 39-70 p.F508del : unidentified PS-CF (B. cepacia colonization, bronchitis) R89C F 20 23-107 p.F508del : unidentified PS-CF R71C F 17 58-90 p.G542X : unidentified PI-CF (S. aureus and P. aeruginosa colonization) R48C F 19 81 Unidentified : unidentified PI-CF (meconium ileus) R44C F 11 70 Unidentified : unidentified PI-CF (died at the age of 11 years) MUC74 M 6 125 Unidentified : unidentified PI-CF (bronchitis, mild disease) PS, pancreatic sufficiency; PI, pancreatic insufficiency; H, Haemophilus; B, Burkholderia; P, Pseudomonas; S, Staphylococcus. Login to comment 111 ABCC7 p.Tyr122* The three most frequent mutations are: p.F508del (47%), p.Y122X (20%) and c.3120ϩ1G Ǟ A (8.7%). Login to comment