ABCMdb

PMID: 21296036

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvorakova L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I
Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.
J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Asn1303Lys Conclusion: We have identified common CF causing mutations in the Hungarian population with the most common mutations (p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21 kb), 2184insA, p.Gly542X, and p.Leu101X), comprising over 93.75% of all CF alleles. Login to comment 33 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Ser1251Asn ABCC7 p.Asp1152His The Elucigene CF29Tm v2 Kit is capable of detecting the following mutations: p.Asp1152His (c.3454 GNC), c.1585-1 GNA, p.Gly542X (c.1624 GNT), p.Trp1282X (c.3846 GNA), p.Asn1303Lys (c.3909 C NG), p.Phe508del (c.1521_ 1523delCTT), c.3717+12191 CNT, p.Leu88IlefsX22 (c.262_ 263delTT), c.489+1 GNT, p.Ser1251Asn (c.3752 GNA), p.Gly551Asp (c.1652 GNA), p.Arg117His (c.350 GNA), p.Arg1162X (c.3484 CNT), p.Arg334Trp (c.1000 CNT), p.Ala455Glu (c.1364 CNA), p.Lys684SerfsX38 (c.2051_ 2052delAAinsG), p.Lys1177SerfsX15 (c. Login to comment 34 ABCC7 p.Arg347Pro ABCC7 p.Arg347Pro ABCC7 p.Gly85Glu ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr ABCC7 p.Arg560Thr 3528delC), p.Phe316LeufsX12 (c.948delT), p.Ile507del (c.1519_1521delATC), p.Arg347Pro (c.1040 G NC), p.Arg553X (c.1657 C NT), p.Glu60X (c.178 GNT), c.2988+1 GNA, c.2657+5 GNA, c.1766+1 GNA, c.579+1 GNT, p.Gly85Glu (c.254 GNA), c.p.Lys684AsnfsX38 (c.2052delA), and p.Arg560Thr (c.1679 GNC). Login to comment 43 ABCC7 p.Asn1303Lys With the Elucigene CF29Tm v2 assay we identified the p.Phe508del mutation on 56/80 CF alleles (70.00%), p.Asn1303Lys (4x; 5.00%), p.Gly542X (3x; 3.75%), 1717-1 GNA and pArg347Pro (1x each; 1.25%). Login to comment 65 ABCC7 p.Asn1303Lys Altogether six mutations reached a higher prevalence than 1.30%: p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21 kb), 2184insA, p.Gly542X and p.Leu101X, in decreasing order of their frequencies. Login to comment 77 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg347Pro ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Glu831* ABCC7 p.Gln220* ABCC7 p.Tyr1092* ABCC7 p.Ser466* ABCC7 p.Leu101* CFTR mutation Germany 1994 Romania 2008 Austria 1997 Slovakia 2008 Hungary 1992 This study deltaF508 (c.1521_1523 delCTT) 72.0% 56.3% 74.6% 38.2% 64.3% 70.0% G551D (c.1652 GNA) 1.0% N/F 1.6% N/F N/F N/F R553X (c.1657 CNT) 2.3% N/F N/F 1.2% 2.4% N/F G542X (c.1624 GNT) 1.4% 3.9% 2.4% 2.4% 1.2% 3.75% 621+1 GNT (c.489+1 GNT) 0.1% 0.8% N/F N/F N/F N/F 1717-1 GNA (c.1585-1 GNA) 0.9% N/F 0.8% 0.6% 1.2% 1.25% W1282X (c.3846 GNA) 0.7% 2.3% N/F N/F 1.2% N/F N1303K (c.3909 CNG) 2.3% 0.8% N/F 1.2% 1.2% 5.0% R347P (c.1040 GNC) 1.6% N/F 1.6% 1.2% N/A 1.25% CFTRdele2,3(21 kb) 1.5%a 1.6% 2.6%a 1.1%a N/A 5.0% 2184insA (c.2052_2053 insA) 0.6% N/F N/F 2.4% N/A 5.0% L101X (c.302 TNG) N/F N/F N/F N/F N/A 2.5% Q220X (c.658 CNT) N/F N/F N/F N/F N/A 1.25% S466X (c.1397 CNG) N/F N/F N/F N/F N/A 1.25% E831X (c.2491 GNT) N/F N/F N/F 0.6% N/A 1.25% Y1092X (c.3276 CNA) 0.3% N/F N/F N/F N/A 1.25% Legend: data for Germany [8], Romania [9], Austria [10], Slovakia [11] and Hungary [3]; N/A: not analyzed; N/F: not found, a frequencies reported by Dork et al. in 2000 [6], mutations included in the Elucigene CF29 v2 assay are formatted in italics; the original "legacy name" is followed by the recommended mutation nomenclature [17]. Login to comment