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Article: Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

TitleMolecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas
Authors
Issue Date2003
PublisherBMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/
Citation
Gut, 2003, v. 52 n. 8, p. 1159-1164 How to Cite?
AbstractBackground and aims: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function. Methods: We assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110 were pancreatic sufficient, and 22 pancreatic sufficient patients progressed to pancreatic insufficiency after diagnosis. Results: We identified mutations on both alleles in 633 patients (85.3%), on one allele in 95 (12.8%), and on neither allele in 14 (1.9%). Seventy six different mutations were identified. The most common mutation was ΔF508 (71.3%) followed by G551D (2.9%), G542X (2.3%), 621+1G→T (1.2%), and W1282X (1.2%). Patients were categorized into five classes according to the predicted functional consequences of each mutation. Over 95% of patients with severe class I, II, and III mutations were pancreatic insufficient or progressed to pancreatic insufficiency. In contrast, patients with mild class IV and V mutations were consistently pancreatic sufficient. In all but four cases each genotype correlated exclusively with the pancreatic phenotype. Quantitative data of acinar and ductular secretion were available in 93 patients. Patients with mutations belonging to classes I, II, and III had greatly reduced acinar and ductular function compared with those with class IV or V mutations. Conclusion: The predicted or known functional consequences of specific mutant alleles correlate with the severity of pancreatic disease in cystic fibrosis.
Persistent Identifierhttp://hdl.handle.net/10722/42535
ISSN
2014 Impact Factor: 14.660
2014 SCImago Journal Rankings: 5.130
PubMed Central ID
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAhmed, Nen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorForstner, Gen_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorEllis, Len_HK
dc.contributor.authorTullis, Een_HK
dc.contributor.authorDurie, Pen_HK
dc.date.accessioned2007-01-29T08:52:24Z-
dc.date.available2007-01-29T08:52:24Z-
dc.date.issued2003en_HK
dc.identifier.citationGut, 2003, v. 52 n. 8, p. 1159-1164en_HK
dc.identifier.issn0017-5749en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42535-
dc.description.abstractBackground and aims: We tested the hypothesis that the actual or predicted consequences of mutations in the cystic fibrosis transmembrane regulator gene correlate with the pancreatic phenotype and with measures of quantitative exocrine pancreatic function. Methods: We assessed 742 patients with cystic fibrosis for whom genotype and clinical data were available. At diagnosis, 610 were pancreatic insufficient, 110 were pancreatic sufficient, and 22 pancreatic sufficient patients progressed to pancreatic insufficiency after diagnosis. Results: We identified mutations on both alleles in 633 patients (85.3%), on one allele in 95 (12.8%), and on neither allele in 14 (1.9%). Seventy six different mutations were identified. The most common mutation was ΔF508 (71.3%) followed by G551D (2.9%), G542X (2.3%), 621+1G→T (1.2%), and W1282X (1.2%). Patients were categorized into five classes according to the predicted functional consequences of each mutation. Over 95% of patients with severe class I, II, and III mutations were pancreatic insufficient or progressed to pancreatic insufficiency. In contrast, patients with mild class IV and V mutations were consistently pancreatic sufficient. In all but four cases each genotype correlated exclusively with the pancreatic phenotype. Quantitative data of acinar and ductular secretion were available in 93 patients. Patients with mutations belonging to classes I, II, and III had greatly reduced acinar and ductular function compared with those with class IV or V mutations. Conclusion: The predicted or known functional consequences of specific mutant alleles correlate with the severity of pancreatic disease in cystic fibrosis.en_HK
dc.format.extent103157 bytes-
dc.format.extent30208 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherBMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/en_HK
dc.relation.ispartofGuten_HK
dc.rightsGut. Copyright © B M J Publishing Group.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshCystic fibrosisen_HK
dc.subject.meshCystic fibrosis transmembrane regulatoren_HK
dc.subject.meshPancreatic insufficiencyen_HK
dc.subject.meshPancreasen_HK
dc.subject.meshExocrine pancreatic insufficiency - genetics - physiopathologyen_HK
dc.titleMolecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreasen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0017-5749&volume=52&issue=8&spage=1159&epage=1164&date=2003&atitle=Molecular+consequences+of+cystic+fibrosis+transmembrane+regulator+(CFTR)+gene+mutations+in+the+exocrine+pancreasen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/gut.52.8.1159en_HK
dc.identifier.pmid12865275en_HK
dc.identifier.pmcidPMC1773762-
dc.identifier.scopuseid_2-s2.0-0038298386en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0038298386&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume52en_HK
dc.identifier.issue8en_HK
dc.identifier.spage1159en_HK
dc.identifier.epage1164en_HK
dc.identifier.isiWOS:000184182300016-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridAhmed, N=36889251400en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridForstner, G=7005165149en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridEllis, L=7202635758en_HK
dc.identifier.scopusauthoridTullis, E=6602749234en_HK
dc.identifier.scopusauthoridDurie, P=7005360997en_HK

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