ABCMdb

PMID: 7543317

Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M
Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
Hum Mol Genet. 1995 Apr;4(4):635-9., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys ABCC7 p.Met1137Val In this search, different CFTR gene mutations (R75Q, AF508, R1066C, M1137V and 3667ins4) were found in five out of 16 adult Italian patients with disseminated bronchiectasis, a significant increase over the expected frequency of carriers. Login to comment 5 ABCC7 p.Arg1066Cys ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-*G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C. Login to comment 25 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu ABCC7 p.Gln552* RESULTS Common CF mutations All the study subjects were initially typed with respect to some CFTR mutations known to be present in CF patients in the North East Italian population: AF508, R1162X, 2183AA->G, NI303K, G542X, 711 + 5G->A, 1717-1 G^>A, 1717-8G->A, G85E, R553X, 2789 + 5 G->A, Q552X, 621 + 1 G->T, W1282X, 3132delTG, 2790-2A->G, 457 TAT->G, R347P, G551D, 1898 + 3A->G and 3849 + 10 kbC^T. Login to comment 31 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Pro574His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Ser1255Pro ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Leu206Trp ABCC7 p.Gly85Glu ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys ABCC7 p.Tyr1092* ABCC7 p.Gln552* ABCC7 p.Asp1152His ABCC7 p.Arg1283Met ABCC7 p.His1085Arg ABCC7 p.Gln890* ABCC7 p.Ala1067Thr ABCC7 p.Asp836Tyr ABCC7 p.Arg709* ABCC7 p.His1054Asp ABCC7 p.Gly1061Arg ABCC7 p.Val456Phe ABCC7 p.Asp1377His List of CFTR gene mutations and DNA polymorphisms screened Mutations R75Q/X/L, G85E, 394deITT 457TAT->G, R117H 621 + 1G->T 711 + 5G->A L206W 875 + 40 A->G 936 del TA 1001 + 11C->T R334W, R347 P/H/L, 1154insTC A455E, V456F DF5O8 1717-IG->A, 1717-8G->A G542X, G551D, Q552X, R553X P574H 1898 + 3A->G 2183 AA->G, 2184delA, R709X D836Y, 2694 T/G 2752-22 A/G 2789 + 5 G->A, 2790-2 A-»G Q890X 3041-71 G/C 3132delTG 3271 + 18 C-»T, 3272-26 A->G H1054D, G1061R, R1066C/H, A1067T, H1085R, Y1092X, 3320 ins5 D1152H R1162X, 3667ins4, 3737delA, 11234V 3849 + 10 kb C-»T, 3850-1 G-»A SI25IN, S1255P, 3905insT, 3898insC, D127ON, W1282X, R1283M, 4002 A/G 4005 + 1 G-»A N1303 K/H, 4029 A/G D1377H Q1411 X 4404 C/T, 4521 G/A Location e 3 e 4 i 4 i 5 e 6a i 6a e 6b i 6b e 7 e 9 e 10 i 10 e 11 e 12 i 12 e 13 e 14a i 14a i 14b e 15 i 15 e 17a i 17a e 17b e 18 e 19 i 19 e 20 i 20 e2l e 22 e 23 e24 Listing is in order of location along the CFTR gene, e = exon; i = intron. Login to comment 44 ABCC7 p.Arg1066Cys Mutation R1066C was found in patient #3. Login to comment 46 ABCC7 p.Arg75Gln Mutation R75Q was found in patient #4. Login to comment 53 ABCC7 p.Arg75Gln ABCC7 p.Arg1066Cys ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Leu997Phe Clinical data and CFTR genotypes of patients with bronchiectasis CFTR genotype sex (yr) age age of onset smoke FEV1 FVC sweat mM 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 A F508/U U/U R1066C/2736A->G R75Q/U MI137V/U U/U U/U U/U U/U 3667 ins 4/U U/U U/U G576A-R668C/L997F U/U U/U U/U F F F M F F M M M F M F F M M F 52 70 23 79 55 52 57 42 43 52 21 66 38 59 49 70 3 56 20 50 18 16 16 8 2 6 5 8 20 8 10 42 no no no yes no no no no no no no no ex ex no no 40 80 85 n.d. 54 49 n.d. 59 83 40 91 62 105 36 49 55 45 88 83 n.d. 54 59 n.d. 59 93 47 105 77 99 46 64 64 40 19 6 70 45 28 n.d. 54 n.d. neg 30 neg 58 neg 20 28 # = patient number; FEV1 = forced expiratory volume in I second (% of predicted value); FVC = forced vital capacity (% of predicted value); sweat = sweat test (sodium concentration); U = unknown mutation or no mutation; ex = ex smoker; neg = negative test, no value recorded (cut off value = 80 mM Na); n.d. = not done. Login to comment 57 ABCC7 p.Arg1066Cys Polymorphism 2736A-»G was found once, in patient #3, compounded with mutation R1066C. Login to comment 62 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala Polymorphisms G576A (1859G->C) and R668C (2134C->T) have been detected in patient #13. Login to comment 63 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala G576A and R668C are syntenic, as determined by segregation analysis in her two children. Login to comment 64 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala G576A and R668C were first described as DNA polymorphisms in CF chromosomes (20). Login to comment 65 ABCC7 p.Gly576Ala G576A was found only in this patient. Login to comment 66 ABCC7 p.Arg668Cys R668C was detected also in a 76-year-old male with emphysema. Login to comment 67 ABCC7 p.Leu997Phe Moreover, polymorphism L997F (3123 G-»C, 20) was found in the same patient #13, and it was located in her other gene. Login to comment 68 ABCC7 p.Leu997Phe L997F was found also in a 53-year-old female affected by sarcoidosis, and in a normal adult male. Login to comment 89 ABCC7 p.Arg117His Among the 12 patients with obstructive pulmonary disease other than bronchiectasis, one chronic bronchitis patient had a mutation (R117H), and one a rare DNA polymorphism; one of the two emphysema patients had a DNA polymorphism. Login to comment 120 ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Asp1270Asn ABCC7 p.Gln552* Several mutations were searched by restriction analysis: 457 TAT-»G, R334W, R347P/H/L, A455E, Q552X, 3849 + 10 kbC->T, D1270N. Login to comment 121 ABCC7 p.Pro574His ABCC7 p.Arg75Gln Mutations R75Q/ X/L,621 + 1G->T, 1717-1G->A, P574H,2183AA->G, RI066C, andN13O3K, were examined by restriction site generating PCR as described (30). Login to comment 124 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* Reverse dot blot analysis was used for detecting the following mutations: A F508, G542X, G55ID, R553X, R1162X, W1282X, N1303K (Roche Molecular Systems, kindly provided by Dr R.Saiki). Login to comment