ABCMdb

PMID: 15727251

Radivojevic D, Djurisic M, Lalic T, Guc-Scekic M, Savic J, Minic P, Antoniadi T, Tzetis M, Kanavakis E
Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis.
Genet Test. 2004 Fall;8(3):276-80., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Gly542* ABCC7 p.Arg1070Gln ABCC7 p.Ser466* Six different mutations (F508del, G542X, 621؉1G Ǟ T, 2789؉5G Ǟ A, R1070Q, and S466X) accounted for 79.71% of CF alleles, with the F508del mutation showing a frequency of 72.28%. Login to comment 3 ABCC7 p.Arg334Trp ABCC7 p.Glu585* ABCC7 p.Ala120Thr ABCC7 p.Arg75* Another 12 mutations (R334W, 2184insA, I507del, 1525-1G Ǟ A, E585X, R75X, M1I, 457TAT Ǟ G, 574delA, 2723delTT, A120T, and 2907delTT) covered an additional 3.36%. Login to comment 40 ABCC7 p.Gly542* ABCC7 p.Arg1070Gln ABCC7 p.Ser466* Six different mutations (F508del, 621ϩ1G Ǟ T, G542X, S466X, R1070Q, and 2789ϩ5G Ǟ A) accounted for 79.71% of the CF alleles in Yugoslavian population, of which the F508del mutation had a frequency of 72.28% (253/350). Login to comment 44 ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Glu585* ABCC7 p.Arg1070Gln ABCC7 p.Ala120Thr ABCC7 p.Arg75* ABCC7 p.Ser466* CFTR MUTATIONS IDENTIFIED IN 175 YUGOSLAVIAN CF PATIENTS Location Number of positive Frequency Mutation (exon/intron) CF alleles (percentage) F508del Exon 10 253 72.28 621 ϩ 1G → T Intron 4 10 2.86 G542X Exon 11 9 2.57 S466X Exon 10 3 0.86 2789 ϩ 5 G → A Intron 14b 2 0.57 R1070Q Exon 17b 2 0.57 MI1 Exon 1 1 0.28 R75X Exon 3 1 0.28 457TAT → G Exon 4 1 0.28 574delA Exon 4 1 0.28 A120T Exon 4 1 0.28 R334W Exon 7 1 0.28 1525-1 G → A Intron 9 1 0.28 I507del Exon 10 1 0.28 E585X Exon 12 1 0.28 2184insA Exon 13 1 0.28 2723delTTa Exon 14a 1 0.28 2907delTT Exon 15 1 0.28 Unknown - 61 17.43 aNew frameshift mutation. Login to comment 49 ABCC7 p.Arg1070Gln ABCC7 p.Ser466* Both patients, although unrelated, were compound heterozygous for F508del inherited from one parent, and S466X with R1070Q in cis, inherited from the other parent. Login to comment 55 ABCC7 p.Gly542* ABCC7 p.Arg1070Gln ABCC7 p.Arg75* ABCC7 p.Ser466* Nine different mutations were detected: F508del, 2907delTT, S466X, 457TAT Ǟ G, R75X, 2184insA, G542X, 621ϩ1G Ǟ T, and R1070Q in a total of 76 prenatal analyses (Table 2). Login to comment 63 ABCC7 p.Gly542* A few studies on CF patients from the former Yugoslavian Republic have been published to date, but in only one, based on a relatively small number of CF patients, two mutations were found in affected children from Serbia and Montenegro (F508del, 70%; G542X, 4%) (Dabovic et al., 1992). Login to comment 67 ABCC7 p.Arg334Trp ABCC7 p.Gly542* Six of the molecular defects identified in Yugoslavian patients belong to the 24 most common mutations worldwide (F508del, G542X, 621ϩ1G Ǟ T, I507del, 2789ϩ5G Ǟ A, and R334W) (CFGCA, 1994) (Table 1). Login to comment 70 ABCC7 p.Gly542* The third most common mutation in our population, G542X, is one of the most frequent in European populations (2.6%), is detected in 6.1% CF alleles in Mediterranean countries, and is found TABLE 2. Login to comment 71 ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1070Gln ABCC7 p.Ser466* RESULTS OF PRENATAL DIAGNOSIS OF CF IN SERBIA AND MONTENEGRO Number of prenatal Genotype Material diagnoses Outcome F508del/F508del CVS, AF, CBa 51 11 Affected, 25 carriers, 15 normal, F508del/2907delTT CVS 2 1 Affected, 1 carrier F508del/S466X CVS, AF 2 2 Carriers F508del/457TATϾG CVS 1 1 Carrier F508del/2184insA CVS 1 1 Affected F508del/621ϩ1GϾT CVS 1 1 Normal F508del/R1070Q CVS 1 1 Normal G542X/621ϩ1GϾT CVS 4 1 Affected, 2 carriers, 1 normal G542X/R7X CVS 3 2 Carriers, 1 normal F508del/? Login to comment 74 ABCC7 p.Arg334Trp ABCC7 p.Arg1070Gln ABCC7 p.Ala120Thr ABCC7 p.Arg75* Eleven mutations detected in Yugoslavian (YU) CF alleles were also found in the neighboring region: R1070Q (Albania, Bulgaria, Greece), 2789ϩ5G Ǟ A (Bulgaria, Greece, FYROM, Slovenia), R334W (Greece), 2184insA (Bulgaria, FYROM), I507del (Greece, Italy), 1525-1G Ǟ A (Greece), R75X (Greece), 457TAT Ǟ G (Greece, FYROM, Slovenia), 574delA (Bulgaria), A120T (Greece), and 2907delTT (Slovenia) (Audrezet et al., 1994; CFGAC, 1994; Estivill et al., 1997; Kremensky et al., 2000; Vouk et al., 2000; Koceva et al., 2001; Bobadilla et al., 2002; Kanavakis et al., 2003). Login to comment 75 ABCC7 p.Glu585* ABCC7 p.Ser466* Three other defects were found in single patients in other populations: S466X (Germany), E585X (Italy), and M1I (England) (CFGAC, 2003). Login to comment