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Article: Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

TitleMutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
Authors
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
Citation
American Journal Of Respiratory And Critical Care Medicine, 2006, v. 174 n. 7, p. 787-794 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/44396
ISSN
2014 Impact Factor: 12.996
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorWilschanski, Men_HK
dc.contributor.authorDupuis, Aen_HK
dc.contributor.authorEllis, Len_HK
dc.contributor.authorJarvi, Ken_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTullis, Een_HK
dc.contributor.authorMartin, Sen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorDurie, Pen_HK
dc.date.accessioned2007-09-12T03:52:43Z-
dc.date.available2007-09-12T03:52:43Z-
dc.date.issued2006en_HK
dc.identifier.citationAmerican Journal Of Respiratory And Critical Care Medicine, 2006, v. 174 n. 7, p. 787-794en_HK
dc.identifier.issn1073-449Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/44396-
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.en_HK
dc.languageengen_HK
dc.publisherAmerican Thoracic Society. The Journal's web site is located at http://ajrccm.atsjournals.orgen_HK
dc.relation.ispartofAmerican Journal of Respiratory and Critical Care Medicineen_HK
dc.subjectCFTR mutationsen_HK
dc.subjectCongenital bilateral absence of the vas deferensen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectNasal potential differenceen_HK
dc.subjectSweat chlorideen_HK
dc.subject.meshCystic Fibrosis - diagnosis - geneticsen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - geneticsen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshEpithelial Cells - drug effectsen_HK
dc.subject.meshSodium Channel Blockers - pharmacologyen_HK
dc.titleMutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentialsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1073-449X&volume=174&issue=7&spage=787&epage=794&date=2006&atitle=Mutations+in+the+cystic+fibrosis+transmembrane+regulator+gene+and+in+vivo+transepithelial+potentialsen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1164/rccm.200509-1377OCen_HK
dc.identifier.pmid16840743en_HK
dc.identifier.pmcidPMC2648063-
dc.identifier.scopuseid_2-s2.0-33749446633en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33749446633&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume174en_HK
dc.identifier.issue7en_HK
dc.identifier.spage787en_HK
dc.identifier.epage794en_HK
dc.identifier.isiWOS:000240891900010-
dc.publisher.placeUnited Statesen_HK
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dc.identifier.scopusauthoridWilschanski, M=6701812857en_HK
dc.identifier.scopusauthoridDupuis, A=7005589575en_HK
dc.identifier.scopusauthoridEllis, L=7202635758en_HK
dc.identifier.scopusauthoridJarvi, K=23392788300en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTullis, E=6602749234en_HK
dc.identifier.scopusauthoridMartin, S=35611051800en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK

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