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Article: Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe

TitleCharacterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
Authors
Issue Date2000
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2000, v. 106 n. 3, p. 259-268 How to Cite?
AbstractWe report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for ΔF508/CFTRdele2,3(21 kb) with pairwise-matched ΔF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 'A' and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.
Persistent Identifierhttp://hdl.handle.net/10722/44361
ISSN
2014 Impact Factor: 4.824
2014 SCImago Journal Rankings: 2.261
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDörk, Ten_HK
dc.contributor.authorMacek Jr, Men_HK
dc.contributor.authorMekus, Fen_HK
dc.contributor.authorTümmler, Ben_HK
dc.contributor.authorTzountzouris, Jen_HK
dc.contributor.authorCasals, Ten_HK
dc.contributor.authorKrebsová, Aen_HK
dc.contributor.authorKoudová, Men_HK
dc.contributor.authorSakmaryová, Ien_HK
dc.contributor.authorMacek Sr, Men_HK
dc.contributor.authorVávrová, Ven_HK
dc.contributor.authorZemková, Den_HK
dc.contributor.authorGinter, Een_HK
dc.contributor.authorPetrova, NVen_HK
dc.contributor.authorIvaschenko, Ten_HK
dc.contributor.authorBaranov, Ven_HK
dc.contributor.authorWitt, Men_HK
dc.contributor.authorPogorzelski, Aen_HK
dc.contributor.authorBal, Jen_HK
dc.contributor.authorZékanowsky, Cen_HK
dc.contributor.authorWagner, Ken_HK
dc.contributor.authorStuhrmann, Men_HK
dc.contributor.authorBauer, Ien_HK
dc.contributor.authorSeydewitz, HHen_HK
dc.contributor.authorNeumann, Ten_HK
dc.contributor.authorJakubiczka, Sen_HK
dc.contributor.authorKraus, Cen_HK
dc.contributor.authorThamm, Ben_HK
dc.contributor.authorNechiporenko, Men_HK
dc.contributor.authorLivshits, Len_HK
dc.contributor.authorMosse, Nen_HK
dc.contributor.authorTsukerman, Gen_HK
dc.contributor.authorKadási, Len_HK
dc.contributor.authorRavnikGlavač, Men_HK
dc.contributor.authorGlavač, Den_HK
dc.contributor.authorKomel, Ren_HK
dc.contributor.authorVouk, Ken_HK
dc.contributor.authorKučinskas, Ven_HK
dc.contributor.authorKrumina, Aen_HK
dc.contributor.authorTeder, Men_HK
dc.contributor.authorKocheva, Sen_HK
dc.contributor.authorEfremov, GDen_HK
dc.contributor.authorOnay, Ten_HK
dc.contributor.authorKirdar, Ben_HK
dc.contributor.authorMalone, Gen_HK
dc.contributor.authorSchwarz, Men_HK
dc.contributor.authorZhou, Zen_HK
dc.contributor.authorFriedman, KJen_HK
dc.contributor.authorCarles, Sen_HK
dc.contributor.authorClaustres, Men_HK
dc.contributor.authorBozon, Den_HK
dc.contributor.authorVerlingue, Cen_HK
dc.contributor.authorFérec, Cen_HK
dc.contributor.authorTzetis, Men_HK
dc.contributor.authorKanavakis, Een_HK
dc.contributor.authorCuppens, Hen_HK
dc.contributor.authorBombieri, Cen_HK
dc.contributor.authorPignatti, PFen_HK
dc.contributor.authorSangiuolo, Fen_HK
dc.contributor.authorJordanova, Aen_HK
dc.contributor.authorKusic, Jen_HK
dc.contributor.authorRadojkovič, Den_HK
dc.contributor.authorSertić, Jen_HK
dc.contributor.authorRichter, Den_HK
dc.contributor.authorRukavina, ASen_HK
dc.contributor.authorBjorck, Een_HK
dc.contributor.authorStrandvik, Ben_HK
dc.contributor.authorCardoso, Hen_HK
dc.contributor.authorMontgomery, Men_HK
dc.contributor.authorNakielna, Ben_HK
dc.contributor.authorHughes, Den_HK
dc.contributor.authorEstivill, Xen_HK
dc.contributor.authorAznarez, Ien_HK
dc.contributor.authorTullis, Een_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorZielenski, Jen_HK
dc.date.accessioned2007-09-12T03:52:06Z-
dc.date.available2007-09-12T03:52:06Z-
dc.date.issued2000en_HK
dc.identifier.citationHuman Genetics, 2000, v. 106 n. 3, p. 259-268en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44361-
dc.description.abstractWe report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for ΔF508/CFTRdele2,3(21 kb) with pairwise-matched ΔF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 'A' and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshCystic fibrosis - epidemiology - geneticsen_HK
dc.subject.meshCystic fibrosis - epidemiology - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshEurope - epidemiologyen_HK
dc.subject.meshPhenotypeen_HK
dc.titleCharacterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europeen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.natureabstracten_HK
dc.identifier.doi10.1007/s004390000246en_HK
dc.identifier.pmid10798353en_HK
dc.identifier.scopuseid_2-s2.0-0342657015en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0342657015&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume106en_HK
dc.identifier.issue3en_HK
dc.identifier.spage259en_HK
dc.identifier.epage268en_HK
dc.identifier.isiWOS:000086661100001-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridDörk, T=7007100340en_HK
dc.identifier.scopusauthoridMacek Jr, M=35332282600en_HK
dc.identifier.scopusauthoridMekus, F=6602428863en_HK
dc.identifier.scopusauthoridTümmler, B=7005547970en_HK
dc.identifier.scopusauthoridTzountzouris, J=27267991600en_HK
dc.identifier.scopusauthoridCasals, T=7005777083en_HK
dc.identifier.scopusauthoridKrebsová, A=6602915422en_HK
dc.identifier.scopusauthoridKoudová, M=6507775086en_HK
dc.identifier.scopusauthoridSakmaryová, I=6504038869en_HK
dc.identifier.scopusauthoridMacek Sr, M=24295043500en_HK
dc.identifier.scopusauthoridVávrová, V=7006578459en_HK
dc.identifier.scopusauthoridZemková, D=7003419981en_HK
dc.identifier.scopusauthoridGinter, E=7103183365en_HK
dc.identifier.scopusauthoridPetrova, NV=7101756275en_HK
dc.identifier.scopusauthoridIvaschenko, T=6602683276en_HK
dc.identifier.scopusauthoridBaranov, V=7403109021en_HK
dc.identifier.scopusauthoridWitt, M=7102837034en_HK
dc.identifier.scopusauthoridPogorzelski, A=6603946156en_HK
dc.identifier.scopusauthoridBal, J=7006084917en_HK
dc.identifier.scopusauthoridZékanowsky, C=8777537500en_HK
dc.identifier.scopusauthoridWagner, K=7402542420en_HK
dc.identifier.scopusauthoridStuhrmann, M=7005585141en_HK
dc.identifier.scopusauthoridBauer, I=7005571588en_HK
dc.identifier.scopusauthoridSeydewitz, HH=6603781955en_HK
dc.identifier.scopusauthoridNeumann, T=7102979192en_HK
dc.identifier.scopusauthoridJakubiczka, S=6701697845en_HK
dc.identifier.scopusauthoridKraus, C=7006300628en_HK
dc.identifier.scopusauthoridThamm, B=6701468109en_HK
dc.identifier.scopusauthoridNechiporenko, M=6505800255en_HK
dc.identifier.scopusauthoridLivshits, L=55394909000en_HK
dc.identifier.scopusauthoridMosse, N=8777538600en_HK
dc.identifier.scopusauthoridTsukerman, G=7006416692en_HK
dc.identifier.scopusauthoridKadási, L=21635102000en_HK
dc.identifier.scopusauthoridRavnikGlavač, M=7004159378en_HK
dc.identifier.scopusauthoridGlavač, D=7003792509en_HK
dc.identifier.scopusauthoridKomel, R=7005579712en_HK
dc.identifier.scopusauthoridVouk, K=6508131954en_HK
dc.identifier.scopusauthoridKučinskas, V=7003568994en_HK
dc.identifier.scopusauthoridKrumina, A=6603203537en_HK
dc.identifier.scopusauthoridTeder, M=6506959123en_HK
dc.identifier.scopusauthoridKocheva, S=24076359900en_HK
dc.identifier.scopusauthoridEfremov, GD=7006691531en_HK
dc.identifier.scopusauthoridOnay, T=24479257900en_HK
dc.identifier.scopusauthoridKirdar, B=7004321965en_HK
dc.identifier.scopusauthoridMalone, G=7004410054en_HK
dc.identifier.scopusauthoridSchwarz, M=7402724854en_HK
dc.identifier.scopusauthoridZhou, Z=7406093181en_HK
dc.identifier.scopusauthoridFriedman, KJ=7005943447en_HK
dc.identifier.scopusauthoridCarles, S=6603143322en_HK
dc.identifier.scopusauthoridClaustres, M=7005881485en_HK
dc.identifier.scopusauthoridBozon, D=7003759305en_HK
dc.identifier.scopusauthoridVerlingue, C=6603883975en_HK
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dc.identifier.scopusauthoridJordanova, A=35268687300en_HK
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dc.identifier.scopusauthoridRukavina, AS=6701503877en_HK
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dc.identifier.scopusauthoridCardoso, H=7003560944en_HK
dc.identifier.scopusauthoridMontgomery, M=7102101052en_HK
dc.identifier.scopusauthoridNakielna, B=6508207962en_HK
dc.identifier.scopusauthoridHughes, D=8849389000en_HK
dc.identifier.scopusauthoridEstivill, X=36047834200en_HK
dc.identifier.scopusauthoridAznarez, I=6506570199en_HK
dc.identifier.scopusauthoridTullis, E=6602749234en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK

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