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
2011 Impact Factor: 11.08
2011 SCImago Journal Rankings: 1.008
DOIhttp://dx.doi.org/10.1164/rccm.200509-1377OC
ISI Accession Number IDWOS:000240891900010
PubMed Central IDPMC2648063
ReferencesReferences in Scopus
DC Field
Value
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
dc.identifier.isiWOS:000240891900010
dc.identifier.issn1073-449X
2011 Impact Factor: 11.08
2011 SCImago Journal Rankings: 1.008
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
Author Affiliations
  1. Hospital for Sick Children, Toronto