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Article: Cystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus

TitleCystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileus
Authors
Issue Date1992
PublisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Citation
American Journal Of Human Genetics, 1992, v. 51 n. 2, p. 245-250 How to Cite?
AbstractThe glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a worldwide frequency of 3.1% among CF chromosomes. Regions with a high frequency correspond to areas with large populations of Celtic descent. To determine whether G551D confers a different phenotype than does ΔF508, the most common CF mutation, we studied 79 compound heterozygotes for G551D/ΔF508, from nine centers in Europe and North America. Each subject was matched, by age and sex, with a ΔF508 homozygote from the same center. A retrospective cohort analysis was performed on the following outcome parameters: age at diagnosis, sweat chloride, meconium ileus at birth, height, weight, weight for height, FVC, FEV 1, chest X-ray score, pseudomonas colonization, pancreatic sufficiency, and Shwachman clinical score. There was less meconium ileus among the G551D/ΔF508 compound heterozygotes (relative risk 0.33; 95% confidence interval .13-.86), as well as a trend toward later age at diagnosis of pancreatic insufficiency. No statistically significant difference was found between the groups for any other parameter. These results suggest that the CF genotype can be a predictor of pancreatic and intestinal phenotype. Prenatal counseling for the two genotype groups should differ only with respect to probability of meconium ileus. Clinical outcome (after survival of meconium ileus) for G551D/ΔF508 compound heterozygotes and ΔF508 homozygotes is indistinguishable; therefore, prognostic counseling should not differ.
Persistent Identifierhttp://hdl.handle.net/10722/178190
ISSN
2015 Impact Factor: 10.794
2015 SCImago Journal Rankings: 8.769
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorHamosh, Aen_US
dc.contributor.authorKing, TMen_US
dc.contributor.authorRosenstein, BJen_US
dc.contributor.authorCorey, Men_US
dc.contributor.authorLevison, Hen_US
dc.contributor.authorDurie, Pen_US
dc.contributor.authorTsui , LCen_US
dc.contributor.authorMcintosh, Ien_US
dc.contributor.authorKeston, Men_US
dc.contributor.authorBrock, DJHen_US
dc.contributor.authorMacek Jr, Men_US
dc.contributor.authorZemkova, Den_US
dc.contributor.authorKrasnicanova, Hen_US
dc.contributor.authorVavrova, Ven_US
dc.contributor.authorMacek Sr, Men_US
dc.contributor.authorGolder, Nen_US
dc.contributor.authorSchwarz, MJen_US
dc.contributor.authorSuper, Men_US
dc.contributor.authorWatson, EKen_US
dc.date.accessioned2012-12-19T09:43:20Z-
dc.date.available2012-12-19T09:43:20Z-
dc.date.issued1992en_US
dc.identifier.citationAmerican Journal Of Human Genetics, 1992, v. 51 n. 2, p. 245-250en_US
dc.identifier.issn0002-9297en_US
dc.identifier.urihttp://hdl.handle.net/10722/178190-
dc.description.abstractThe glycine-to-aspartic acid missense mutation at codon 551 (G551D), which is within the first nucleotide-binding fold of the cystic fibrosis transmembrane conductance regulator (CFTR), is the third most common cystic fibrosis (CF) mutation, with a worldwide frequency of 3.1% among CF chromosomes. Regions with a high frequency correspond to areas with large populations of Celtic descent. To determine whether G551D confers a different phenotype than does ΔF508, the most common CF mutation, we studied 79 compound heterozygotes for G551D/ΔF508, from nine centers in Europe and North America. Each subject was matched, by age and sex, with a ΔF508 homozygote from the same center. A retrospective cohort analysis was performed on the following outcome parameters: age at diagnosis, sweat chloride, meconium ileus at birth, height, weight, weight for height, FVC, FEV 1, chest X-ray score, pseudomonas colonization, pancreatic sufficiency, and Shwachman clinical score. There was less meconium ileus among the G551D/ΔF508 compound heterozygotes (relative risk 0.33; 95% confidence interval .13-.86), as well as a trend toward later age at diagnosis of pancreatic insufficiency. No statistically significant difference was found between the groups for any other parameter. These results suggest that the CF genotype can be a predictor of pancreatic and intestinal phenotype. Prenatal counseling for the two genotype groups should differ only with respect to probability of meconium ileus. Clinical outcome (after survival of meconium ileus) for G551D/ΔF508 compound heterozygotes and ΔF508 homozygotes is indistinguishable; therefore, prognostic counseling should not differ.en_US
dc.languageengen_US
dc.publisherCell Press. The Journal's web site is located at http://www.cell.com/AJHG/en_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAspartic Acid - Geneticsen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCodonen_US
dc.subject.meshCystic Fibrosis - Complications - Geneticsen_US
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulatoren_US
dc.subject.meshGlycine - Geneticsen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshIntestinal Obstruction - Epidemiology - Etiology - Geneticsen_US
dc.subject.meshMeconiumen_US
dc.subject.meshMembrane Proteins - Geneticsen_US
dc.subject.meshMutationen_US
dc.subject.meshRisk Factorsen_US
dc.titleCystic fibrosis patients bearing both the common missense mutation Gly→Asp at codon 551 and the ΔF508 mutation are clinically indistinguishable from ΔF508 homozygotes, except for decreased risk of meconium ileusen_US
dc.typeArticleen_US
dc.identifier.emailTsui , LC: tsuilc@hkucc.hku.hken_US
dc.identifier.authorityTsui , LC=rp00058en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid1379413-
dc.identifier.scopuseid_2-s2.0-0026725724en_US
dc.identifier.volume51en_US
dc.identifier.issue2en_US
dc.identifier.spage245en_US
dc.identifier.epage250en_US
dc.identifier.isiWOS:A1992JF77600003-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridHamosh, A=7003914063en_US
dc.identifier.scopusauthoridKing, TM=7403270919en_US
dc.identifier.scopusauthoridRosenstein, BJ=7102586288en_US
dc.identifier.scopusauthoridCorey, M=7005819978en_US
dc.identifier.scopusauthoridLevison, H=7103193312en_US
dc.identifier.scopusauthoridDurie, P=7005360997en_US
dc.identifier.scopusauthoridTsui , LC=7102754167en_US
dc.identifier.scopusauthoridMcIntosh, I=7006393990en_US
dc.identifier.scopusauthoridKeston, M=6603048392en_US
dc.identifier.scopusauthoridBrock, DJH=7202554348en_US
dc.identifier.scopusauthoridMacek Jr, M=55126286100en_US
dc.identifier.scopusauthoridZemkova, D=7003419981en_US
dc.identifier.scopusauthoridKrasnicanova, H=6603937090en_US
dc.identifier.scopusauthoridVavrova, V=7006578459en_US
dc.identifier.scopusauthoridMacek Sr, M=24295043500en_US
dc.identifier.scopusauthoridGolder, N=16236453700en_US
dc.identifier.scopusauthoridSchwarz, MJ=7402724854en_US
dc.identifier.scopusauthoridSuper, M=7006312401en_US
dc.identifier.scopusauthoridWatson, EK=7203065314en_US

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