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Article: Novel cystic fibrosis mutation (2215insG) two adolescent Taiwanese siblings

TitleNovel cystic fibrosis mutation (2215insG) two adolescent Taiwanese siblings
Authors
KeywordsConductance regulator
Cystic fibrosis
Cystic fibrosis transmembrane
Sweat test
Issue Date2000
PublisherScientific Communications International Ltd. The Journal's web site is located at http://www.jfma.org.tw/index.htm
Citation
Journal Of The Formosan Medical Association, 2000, v. 99 n. 7, p. 564-567 How to Cite?
AbstractCystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with repeated airway infections, poor weight gain, clubbing of the fingers, hypoxemia, and obstructive ventilatory impairment. Multiple focal bronchiectases and emphysema were demonstrated on high-resolution computed tomography. Sweat chloride concentrations, as measured using the modified sweat chloride test in a closed space with a heater, were 327 mmol/L and 276 mmol/L, respectively. To confirm the CF diagnosis, DNA mutation analysis was performed. All 27 exons of the CF transmembrane conductance regulator (TR) gene and their flanking intron sequences were screened for nucleotide sequence alterations, and the mutations were then identified by direct DNA sequence analysis. Both siblings carried 1898+SG→T; a mutation previously identified in Taiwan. In addition, the mutation analysis identified a new single-base-insertion mutation in exon 13 on the second CFTR allele of these patients. This mutation, named 2215insG, is expected to cause a significant disruption of CFTR function. The 1898+SG→T/2215insG genotype is thus consistent with the CF diagnosis. A new missense mutation, S895N, in exon 15 of the CFTR gene, which cosegregated with 2215insG, was also identified in both of these patients.
Persistent Identifierhttp://hdl.handle.net/10722/44362
ISSN
2015 Impact Factor: 2.018
2015 SCImago Journal Rankings: 0.607
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWu, CLen_HK
dc.contributor.authorShu, SGen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorChiang, CDen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:52:07Z-
dc.date.available2007-09-12T03:52:07Z-
dc.date.issued2000en_HK
dc.identifier.citationJournal Of The Formosan Medical Association, 2000, v. 99 n. 7, p. 564-567en_HK
dc.identifier.issn0929-6646en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44362-
dc.description.abstractCystic fibrosis (CF) is an autosomal recessive disorder that is rarely found in Asians. Only four cases of CF from four different families have been reported in Taiwan. We report two cases of CF involving two teenage siblings. Both presented with repeated airway infections, poor weight gain, clubbing of the fingers, hypoxemia, and obstructive ventilatory impairment. Multiple focal bronchiectases and emphysema were demonstrated on high-resolution computed tomography. Sweat chloride concentrations, as measured using the modified sweat chloride test in a closed space with a heater, were 327 mmol/L and 276 mmol/L, respectively. To confirm the CF diagnosis, DNA mutation analysis was performed. All 27 exons of the CF transmembrane conductance regulator (TR) gene and their flanking intron sequences were screened for nucleotide sequence alterations, and the mutations were then identified by direct DNA sequence analysis. Both siblings carried 1898+SG→T; a mutation previously identified in Taiwan. In addition, the mutation analysis identified a new single-base-insertion mutation in exon 13 on the second CFTR allele of these patients. This mutation, named 2215insG, is expected to cause a significant disruption of CFTR function. The 1898+SG→T/2215insG genotype is thus consistent with the CF diagnosis. A new missense mutation, S895N, in exon 15 of the CFTR gene, which cosegregated with 2215insG, was also identified in both of these patients.en_HK
dc.languageengen_HK
dc.publisherScientific Communications International Ltd. The Journal's web site is located at http://www.jfma.org.tw/index.htmen_HK
dc.relation.ispartofJournal of the Formosan Medical Associationen_HK
dc.subjectConductance regulatoren_HK
dc.subjectCystic fibrosisen_HK
dc.subjectCystic fibrosis transmembraneen_HK
dc.subjectSweat testen_HK
dc.subject.meshCystic Fibrosis - geneticsen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshExonsen_HK
dc.titleNovel cystic fibrosis mutation (2215insG) two adolescent Taiwanese siblingsen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.pmid10925568-
dc.identifier.scopuseid_2-s2.0-0033913365en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033913365&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume99en_HK
dc.identifier.issue7en_HK
dc.identifier.spage564en_HK
dc.identifier.epage567en_HK
dc.identifier.isiWOS:000088271000008-
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridWu, CL=7501672595en_HK
dc.identifier.scopusauthoridShu, SG=35293734200en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridChiang, CD=7402434674en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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