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Article: Correlation between genotype and phenotype in patients with cystic fibrosis

TitleCorrelation between genotype and phenotype in patients with cystic fibrosis
Authors
Issue Date1993
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Citation
New England Journal Of Medicine, 1993, v. 329 n. 18, p. 1308-1313 How to Cite?
AbstractBackground. Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: ΔF 508, G542X, R553X, W1282X, N1303K, 621 + 1G → T, 1717-1G → A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries. Methods. Each of 399 patients who were compound heterozygotes for ΔF 508 and one other mutation was matched with the ΔF 508 homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles, pulmonary-function values, chest-film score, pseudomonas colonization, nasal polyps, pancreatic sufficiency, pancreatitis, diabetes mellitus, meconium ileus, distal intestinal obstruction syndrome, rectal prolapse, cirrhosis, and gallbladder disease. Results. The compound heterozygotes having the genotype R117H/ΔF 508 clearly differed from the age- and sex-matched ΔF 508 homozygotes: they more often had pancreatic sufficiency (87 percent vs. 4 percent, P<0.001), were older when the diagnosis was first made (mean [±SD] age, 10.2±10.5 vs. 2.5±4.3 years; P = 0.002), and had lower sweat chloride concentrations (80±18 vs. 108±14 mmol per liter, P<0.001). There were no statistically significant differences between ΔF 508 homozygotes and other compound heterozygotes with regard to any variable tested. Conclusions. Prenatal and prognostic counseling for patients with the R117H/ΔF 508 genotype should include the likelihood that they will have long-term pancreatic sufficiency. Patients with the other genotypes should expect the early onset of pancreatic insufficiency. For none of the genotypes studied can predictions be made about the occurrence of common complications or the severity or course of pulmonary disease.
DescriptionThe members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the Appendix
Persistent Identifierhttp://hdl.handle.net/10722/133877
ISSN
2023 Impact Factor: 96.2
2023 SCImago Journal Rankings: 20.544

 

DC FieldValueLanguage
dc.contributor.authorHamosh, Aen_HK
dc.contributor.authorRosenstein, BJen_HK
dc.contributor.authorNash, Een_HK
dc.contributor.authorCurristin, SMen_HK
dc.contributor.authorCutting, GRen_HK
dc.contributor.authorMacek Jr, Men_HK
dc.contributor.authorMcIntosh, Ien_HK
dc.contributor.authorKrasnicanova, Hen_HK
dc.contributor.authorVavrova, Ven_HK
dc.contributor.authorZemkova, Den_HK
dc.contributor.authorKeston, Men_HK
dc.contributor.authorBrock, DJHen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorDurie, Pen_HK
dc.contributor.authorLevison, Hen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorAubin, Gen_HK
dc.contributor.authorSimard, Fen_HK
dc.contributor.authorAllard, Cen_HK
dc.date.accessioned2011-06-02T07:58:18Z-
dc.date.available2011-06-02T07:58:18Z-
dc.date.issued1993en_HK
dc.identifier.citationNew England Journal Of Medicine, 1993, v. 329 n. 18, p. 1308-1313en_HK
dc.identifier.issn0028-4793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/133877-
dc.descriptionThe members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the Appendix-
dc.description.abstractBackground. Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: ΔF 508, G542X, R553X, W1282X, N1303K, 621 + 1G → T, 1717-1G → A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries. Methods. Each of 399 patients who were compound heterozygotes for ΔF 508 and one other mutation was matched with the ΔF 508 homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles, pulmonary-function values, chest-film score, pseudomonas colonization, nasal polyps, pancreatic sufficiency, pancreatitis, diabetes mellitus, meconium ileus, distal intestinal obstruction syndrome, rectal prolapse, cirrhosis, and gallbladder disease. Results. The compound heterozygotes having the genotype R117H/ΔF 508 clearly differed from the age- and sex-matched ΔF 508 homozygotes: they more often had pancreatic sufficiency (87 percent vs. 4 percent, P<0.001), were older when the diagnosis was first made (mean [±SD] age, 10.2±10.5 vs. 2.5±4.3 years; P = 0.002), and had lower sweat chloride concentrations (80±18 vs. 108±14 mmol per liter, P<0.001). There were no statistically significant differences between ΔF 508 homozygotes and other compound heterozygotes with regard to any variable tested. Conclusions. Prenatal and prognostic counseling for patients with the R117H/ΔF 508 genotype should include the likelihood that they will have long-term pancreatic sufficiency. Patients with the other genotypes should expect the early onset of pancreatic insufficiency. For none of the genotypes studied can predictions be made about the occurrence of common complications or the severity or course of pulmonary disease.en_HK
dc.languageeng-
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/en_HK
dc.relation.ispartofNew England Journal of Medicineen_HK
dc.rightsNew England Journal of Medicine. Copyright © Massachusetts Medical Society.-
dc.subject.meshChromosomes, Human, Pair 7-
dc.subject.meshCystic Fibrosis - genetics-
dc.subject.meshGenotype-
dc.subject.meshMutation-
dc.subject.meshPhenotype-
dc.titleCorrelation between genotype and phenotype in patients with cystic fibrosisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0028-4793&volume=329&issue=18&spage=1308&epage=1313&date=1993&atitle=Correlation+between+genotype+and+phenotype+in+patients+with+cystic+fibrosis+-
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1056/NEJM199310283291804en_HK
dc.identifier.pmid8166795en_HK
dc.identifier.scopuseid_2-s2.0-0027517995en_HK
dc.identifier.hkuros120982-
dc.identifier.volume329en_HK
dc.identifier.issue18en_HK
dc.identifier.spage1308en_HK
dc.identifier.epage1313en_HK
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridHamosh, A=7003914063en_HK
dc.identifier.scopusauthoridRosenstein, BJ=7102586288en_HK
dc.identifier.scopusauthoridNash, E=7005816289en_HK
dc.identifier.scopusauthoridCurristin, SM=6602652353en_HK
dc.identifier.scopusauthoridCutting, GR=7006007820en_HK
dc.identifier.scopusauthoridMacek Jr, M=24295043500en_HK
dc.identifier.scopusauthoridMcIntosh, I=7006393990en_HK
dc.identifier.scopusauthoridKrasnicanova, H=6603937090en_HK
dc.identifier.scopusauthoridVavrova, V=7006578459en_HK
dc.identifier.scopusauthoridZemkova, D=7003419981en_HK
dc.identifier.scopusauthoridKeston, M=6603048392en_HK
dc.identifier.scopusauthoridBrock, DJH=7202554348en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK
dc.identifier.scopusauthoridLevison, H=7103193312en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridAubin, G=7006702439en_HK
dc.identifier.scopusauthoridSimard, F=7003983457en_HK
dc.identifier.scopusauthoridAllard, C=7005382942en_HK
dc.identifier.issnl0028-4793-

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