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Article: Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
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TitleMutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
 
AuthorsWilschanski, M
Dupuis, A
Ellis, L
Jarvi, K
Zielenski, J
Tullis, E
Martin, S
Corey, M
Tsui, LC
Durie, P1
 
KeywordsCFTR mutations
Congenital bilateral absence of the vas deferens
Cystic fibrosis
Nasal potential difference
Sweat chloride
 
Issue Date2006
 
PublisherAmerican Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.org
 
CitationAmerican Journal Of Respiratory And Critical Care Medicine, 2006, v. 174 n. 7, p. 787-794 [How to Cite?]
DOI: http://dx.doi.org/10.1164/rccm.200509-1377OC
 
AbstractAim: To examine the relationship between cystic fibrosis transmembrane regulator gene mutations (CFTR) and in vivo transepithelial potentials. Methods: We prospectively evaluated 162 men including 31 healthy subjects, 21 obligate heterozygotes, 60 with congenital bilateral absence of the vas deferens (CBAVD) and 50 with CF by extensive CFTR genotyping, sweat chloride and nasal potential difference testing. Results: Six (10%) men with CBAVD carried no CFTR mutations, 18 (30%) carried onemutation, including the 5T variant, and 36 (60%) carried mutations on both alleles, for a significantly higher rate carrying one or more mutations than healthy controls (90% versus 19%, p < 0.001). There was an overlapping spectrum of ion channel measurements among the men with CBAVD, ranging from values in the control and obligate heterozygote range at one extreme, to values in the CF range at the other. All pancreatic-sufficient patients with CF and 34 of 36 patients with CBAVD with mutations on both alleles carried at least one mild mutation. However, the distribution of mild mutations in the two groups differed greatly. Genotyping, sweat chloride and nasal potential difference (alone or in combination) excluded CF in all CBAVD men with no mutations. CF was confirmed in 56% and 67% of CBAVD men carrying 1 and 2 CFTR mutations, respectively. Conclusion: Abnormalities of CFTR transepithelial function correlate with the number and severity of CFTR gene mutations.
 
ISSN1073-449X
2012 Impact Factor: 11.041
2012 SCImago Journal Rankings: 4.892
 
DOIhttp://dx.doi.org/10.1164/rccm.200509-1377OC
 
PubMed Central IDPMC2648063
 
ISI Accession Number IDWOS:000240891900010
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorWilschanski, M
 
dc.contributor.authorDupuis, A
 
dc.contributor.authorEllis, L
 
dc.contributor.authorJarvi, K
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorTullis, E
 
dc.contributor.authorMartin, S
 
dc.contributor.authorCorey, M
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorDurie, P
 
dc.date.accessioned2007-09-12T03:52:43Z
 
dc.date.available2007-09-12T03:52:43Z
 
dc.date.issued2006
 
dc.description.abstractAim: To examine the relationship between cystic fibrosis transmembrane regulator gene mutations (CFTR) and in vivo transepithelial potentials. Methods: We prospectively evaluated 162 men including 31 healthy subjects, 21 obligate heterozygotes, 60 with congenital bilateral absence of the vas deferens (CBAVD) and 50 with CF by extensive CFTR genotyping, sweat chloride and nasal potential difference testing. Results: Six (10%) men with CBAVD carried no CFTR mutations, 18 (30%) carried onemutation, including the 5T variant, and 36 (60%) carried mutations on both alleles, for a significantly higher rate carrying one or more mutations than healthy controls (90% versus 19%, p < 0.001). There was an overlapping spectrum of ion channel measurements among the men with CBAVD, ranging from values in the control and obligate heterozygote range at one extreme, to values in the CF range at the other. All pancreatic-sufficient patients with CF and 34 of 36 patients with CBAVD with mutations on both alleles carried at least one mild mutation. However, the distribution of mild mutations in the two groups differed greatly. Genotyping, sweat chloride and nasal potential difference (alone or in combination) excluded CF in all CBAVD men with no mutations. CF was confirmed in 56% and 67% of CBAVD men carrying 1 and 2 CFTR mutations, respectively. Conclusion: Abnormalities of CFTR transepithelial function correlate with the number and severity of CFTR gene mutations.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationAmerican Journal Of Respiratory And Critical Care Medicine, 2006, v. 174 n. 7, p. 787-794 [How to Cite?]
DOI: http://dx.doi.org/10.1164/rccm.200509-1377OC
 
dc.identifier.doihttp://dx.doi.org/10.1164/rccm.200509-1377OC
 
dc.identifier.epage794
 
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dc.identifier.isiWOS:000240891900010
 
dc.identifier.issn1073-449X
2012 Impact Factor: 11.041
2012 SCImago Journal Rankings: 4.892
 
dc.identifier.issue7
 
dc.identifier.openurl
 
dc.identifier.pmcidPMC2648063
 
dc.identifier.pmid16840743
 
dc.identifier.scopuseid_2-s2.0-33749446633
 
dc.identifier.spage787
 
dc.identifier.urihttp://hdl.handle.net/10722/44396
 
dc.identifier.volume174
 
dc.languageeng
 
dc.publisherAmerican Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.org
 
dc.publisher.placeUnited States
 
dc.relation.ispartofAmerican Journal of Respiratory and Critical Care Medicine
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshCystic Fibrosis - diagnosis - genetics
 
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - genetics
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshEpithelial Cells - drug effects
 
dc.subject.meshSodium Channel Blockers - pharmacology
 
dc.subjectCFTR mutations
 
dc.subjectCongenital bilateral absence of the vas deferens
 
dc.subjectCystic fibrosis
 
dc.subjectNasal potential difference
 
dc.subjectSweat chloride
 
dc.titleMutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
 
dc.typeArticle
 
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Author Affiliations
  1. Hospital for Sick Children University of Toronto