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Article: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

TitleIdentification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
Authors
Issue Date2009
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, Part A, 2009, v. 149 n. 7, p. 1452-1459 How to Cite?
AbstractMarfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel. In the remaining 41 probands, six were identified to have novel TGFBR2 mutations (one frameshift and five missense mutations). All novel mutations found in this study were confirmed to be absent in 50 unrelated normal individuals of the same ethnic background. In probands who fulfilled the Ghent criteria (n = 16), mutations in FBN1 were found in 81% of cases. None of those with TGFBR2 mutations fulfilled the Ghent criteria. Novel missense mutations of unknown significance were classified according to the latest ACMG guidelines and their likelihood to be causative was evaluated. © 2009 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170416
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChung, BHYen_US
dc.contributor.authorLam, STSen_US
dc.contributor.authorTong, TMFen_US
dc.contributor.authorLi, SYHen_US
dc.contributor.authorLun, KSen_US
dc.contributor.authorChan, DHCen_US
dc.contributor.authorFok, SFSen_US
dc.contributor.authorOr, JSFen_US
dc.contributor.authorSmith, DKen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2012-10-30T06:08:22Z-
dc.date.available2012-10-30T06:08:22Z-
dc.date.issued2009en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, Part A, 2009, v. 149 n. 7, p. 1452-1459en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170416-
dc.description.abstractMarfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel. In the remaining 41 probands, six were identified to have novel TGFBR2 mutations (one frameshift and five missense mutations). All novel mutations found in this study were confirmed to be absent in 50 unrelated normal individuals of the same ethnic background. In probands who fulfilled the Ghent criteria (n = 16), mutations in FBN1 were found in 81% of cases. None of those with TGFBR2 mutations fulfilled the Ghent criteria. Novel missense mutations of unknown significance were classified according to the latest ACMG guidelines and their likelihood to be causative was evaluated. © 2009 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Genetics, Part Aen_US
dc.rightsAmerican Journal of Medical Genetics. Copyright © John Wiley & Sons, Inc.-
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Testingen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMarfan Syndrome - Geneticsen_US
dc.subject.meshMicrofilament Proteins - Geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshProtein-Serine-Threonine Kinases - Geneticsen_US
dc.subject.meshReceptors, Transforming Growth Factor Beta - Geneticsen_US
dc.subject.meshSequence Homology, Amino Aciden_US
dc.subject.meshYoung Adulten_US
dc.titleIdentification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypesen_US
dc.typeArticleen_US
dc.identifier.emailChung, BHY:bhychung@hku.hken_US
dc.identifier.emailYang, W:yangwl@hkucc.hku.hken_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.identifier.authorityYang, W=rp00524en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.32918en_US
dc.identifier.pmid19533785-
dc.identifier.scopuseid_2-s2.0-67649882928en_US
dc.identifier.hkuros160766-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67649882928&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume149en_US
dc.identifier.issue7en_US
dc.identifier.spage1452en_US
dc.identifier.epage1459en_US
dc.identifier.isiWOS:000267770000012-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridChung, BHY=7203043997en_US
dc.identifier.scopusauthoridLam, STS=7402279428en_US
dc.identifier.scopusauthoridTong, TMF=8648362100en_US
dc.identifier.scopusauthoridLi, SYH=12240088100en_US
dc.identifier.scopusauthoridLun, KS=8363663600en_US
dc.identifier.scopusauthoridChan, DHC=8898795000en_US
dc.identifier.scopusauthoridFok, SFS=7005182792en_US
dc.identifier.scopusauthoridOr, JSF=35079132800en_US
dc.identifier.scopusauthoridSmith, DK=7410351143en_US
dc.identifier.scopusauthoridYang, W=23101349500en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US

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