ABCMdb

PMID: 16088537

Luisetti M, Pignatti PF
Genetics of idiopathic disseminated bronchiectasis.
Semin Respir Crit Care Med. 2003 Apr;24(2):179-84., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCC7 p.Ile148Thr ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys ABCC7 p.His949Tyr ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Leu997Phe ABCC7 p.Ile1027Thr ABCC7 p.Ser977Phe ABCC7 p.Thr896Ile ABCC7 p.Asp565Gly ABCC7 p.Thr1220Ile ABCC7 p.Met1137Val ABCC7 p.Asp192Asn Greek M/F 11/12 5/16 na Mean age (yrs) 53 Ϯ 15 53 Ϯ 14 na CFTR gene 1 G576A-R668C/L997F 1 ⌬F508/D192N 1 ⌬F508,I1027T mutation 1 ⌬F508/L997F 1 ⌬I507/3849 + 10kb C → T 1 D565G, R668C 1 ⌬F508/- 1 ⌬F508/3849 + 10kb C → T 1 T896I/- 1 R1066C/- 1 H949Y/T1220I 1 I148T/- 1 3667ins4/- 1 ⌬F508/- 1 ⌬F508/S977F 1 R75Q/- 1 2183AA→G 1 M1137V/- 1 L997F/- IVS8-5T 5 5/7 1 5/9 1 5/5 CFTR, cystic fibrosis transmembrane conductance regulator; na, not available. Login to comment 46 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala The mutations found are listed by the CF Genetic Analysis Consortium as CF mutations (CFGAC),14 with the exception of G576A and R668C, which are not likely to cause CF14 and have been found in patients affected by congenital bilateral absence of the vas deferens (CBAVD). Login to comment 47 ABCC7 p.Leu997Phe L997F was found twice in our series, suggesting that this is a recurrent CFTR mutation in Bx. Login to comment 53 ABCC7 p.Leu997Phe ABCC7 p.Ser977Phe Interestingly, one patient of Girodon`s series carried L997F, the recurrent mutation in our series of Bx subjects, whereas, at variance with our findings, the IVS8-5T variant was not found.The authors concluded that a possible explanation for such a discrepancy could be ethnic admixture in their series.The third paper dealing with analysis of the whole coding region and flanking intronic regions of the CFTR gene in subjects with obstructive pulmonary disease, including 19 subjects with disseminated idiopathic Bx, was performed in a Greek population and published in 2001.13 CFTR mutations were found in five of 19 Bx subjects (p > 0.05 with respect to controls); one patient was a compound heterozygote ⌬F508/S977F and was the only one in whom an IVS8-5T allele was found (Table 2). Login to comment 67 ABCC7 p.Arg117His ABCC7 p.Arg347His Eleven ABPA subjects, all but one with Bx, either central or disseminated, and with a normal sweat test, were analyzed for CFTR gene mutations.24 Six ABPA subjects carried at least one CF mutation (p < 0.003 vs the general population), one patient carried two CF mutations (⌬F508/R347H), and five were heterozygous for one CF mutation (four ⌬F508 and one R117H). Login to comment