Article: Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations

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TitleSpectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
AuthorsStrandvik, B1
Zielenski, J1
Björck, E1
Fallström, M1
Gronowitz, E1
Thountzouris, J1
Lindblad, A1
Markiewicz, D1
Wahlström, J1
Tsui, LC1
Issue Date2001
PublisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
CitationGenetic Testing, 2001, v. 5 n. 3, p. 235-242 [How to Cite?]
DOI: http://dx.doi.org/10.1089/10906570152742290
AbstractCystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (ΔF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G → T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant ΔF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
ISSN1090-6576
DOIhttp://dx.doi.org/10.1089/10906570152742290
ISI Accession Number IDWOS:000173136500010
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorStrandvik, B
dc.contributor.authorZielenski, J
dc.contributor.authorBjörck, E
dc.contributor.authorFallström, M
dc.contributor.authorGronowitz, E
dc.contributor.authorThountzouris, J
dc.contributor.authorLindblad, A
dc.contributor.authorMarkiewicz, D
dc.contributor.authorWahlström, J
dc.contributor.authorTsui, LC
dc.date.accessioned2007-03-23T04:48:54Z
dc.date.available2007-03-23T04:48:54Z
dc.date.issued2001
dc.description.abstractCystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (ΔF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G → T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant ΔF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
dc.description.naturepublished_or_final_version
dc.format.extent151376 bytes
dc.format.extent25088 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypeapplication/msword
dc.identifier.citationGenetic Testing, 2001, v. 5 n. 3, p. 235-242 [How to Cite?]
DOI: http://dx.doi.org/10.1089/10906570152742290
dc.identifier.doihttp://dx.doi.org/10.1089/10906570152742290
dc.identifier.epage242
dc.identifier.isiWOS:000173136500010
dc.identifier.issn1090-6576
dc.identifier.issue3
dc.identifier.openurl
dc.identifier.pmid11788090
dc.identifier.scopuseid_2-s2.0-18244405370
dc.identifier.spage235
dc.identifier.urihttp://hdl.handle.net/10722/43555
dc.identifier.volume5
dc.languageeng
dc.publisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
dc.publisher.placeUnited States
dc.relation.ispartofGenetic Testing
dc.relation.referencesReferences in Scopus
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
dc.subject.meshCystic fibrosis - genetics - physiopathology
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
dc.subject.meshMutation
dc.subject.meshDna mutational analysis
dc.subject.meshMutation, missense
dc.titleSpectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
dc.typeArticle
Author Affiliations
  1. Hospital for Sick Children, Toronto