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Article: Molecular basis of von Hippel-Lindau syndrome in Chinese patients

TitleMolecular basis of von Hippel-Lindau syndrome in Chinese patients
Authors
KeywordsChinese
VHL gene
VHL mutations
Von Hippel-Lindau syndrome
Issue Date2011
PublisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/
Citation
Chinese Medical Journal, 2011, v. 124 n. 2, p. 237-241 How to Cite?
AbstractBackground Von Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families. Methods Nine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). Results The nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G>T, was novel. The other seven VHL mutations, c.233A>G [p.Asn78Ser], c.239G>T [p.Ser80Ile], c.319C>G [p.Arg107Gly], c.481C>T [p.Arg161X], c.482G>A [p.Arg161Gln], c.499C>T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation. Conclusions Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.
Persistent Identifierhttp://hdl.handle.net/10722/139924
ISSN
2015 Impact Factor: 0.957
2015 SCImago Journal Rankings: 0.428
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSiu, WKen_HK
dc.contributor.authorMa, RCWen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorYuen, YPen_HK
dc.contributor.authorLo, FMIen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorLam, SFen_HK
dc.contributor.authorLing, SCen_HK
dc.contributor.authorTong, SFen_HK
dc.contributor.authorSo, WYen_HK
dc.contributor.authorChow, CCen_HK
dc.contributor.authorTang, MHYen_HK
dc.contributor.authorTam, WHen_HK
dc.contributor.authorChan, AYWen_HK
dc.date.accessioned2011-09-23T06:01:31Z-
dc.date.available2011-09-23T06:01:31Z-
dc.date.issued2011en_HK
dc.identifier.citationChinese Medical Journal, 2011, v. 124 n. 2, p. 237-241en_HK
dc.identifier.issn0366-6999en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139924-
dc.description.abstractBackground Von Hippel-Lindau (VHL) syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs. The genetic basis of VHL in Southern Chinese is largely unknown. In this study, we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families. Methods Nine probands with clinical features of VHL, two symptomatic and eight asymptomatic family members were included in this study. Prenatal diagnosis was performed twice for one proband. Two probands had only isolated bilateral phaeochromocytoma. The VHL gene was screened for mutations by polymerase chain reaction, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). Results The nine probands and the two symptomatic family members carried heterozygous germline mutations. Eight different VHL mutations were identified in the nine probands. One splicing mutation, NM_000551.2: c.463+1G>T, was novel. The other seven VHL mutations, c.233A>G [p.Asn78Ser], c.239G>T [p.Ser80Ile], c.319C>G [p.Arg107Gly], c.481C>T [p.Arg161X], c.482G>A [p.Arg161Gln], c.499C>T [p.Arg167Trp] and an exon 2 deletion, had been previously reported. Three asymptomatic family members were positive for the mutation and the other five tested negative. In prenatal diagnosis, the fetuses were positive for the mutation. Conclusions Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma. Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis. DNA-based diagnosis can have an important impact on clinical management for VHL families.en_HK
dc.languageengen_US
dc.publisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/en_HK
dc.relation.ispartofChinese Medical Journalen_HK
dc.subjectChineseen_HK
dc.subjectVHL geneen_HK
dc.subjectVHL mutationsen_HK
dc.subjectVon Hippel-Lindau syndromeen_HK
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshHumansen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshSequence Analysis, DNAen_HK
dc.subject.meshVon Hippel-Lindau Tumor Suppressor Protein - geneticsen_HK
dc.subject.meshvon Hippel-Lindau Disease - geneticsen_HK
dc.titleMolecular basis of von Hippel-Lindau syndrome in Chinese patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0366-6999&volume=124&issue=2&spage=237&epage=241&date=2011&atitle=Molecular+basis+of+von+Hippel-Lindau+syndrome+in+Chinese+patientsen_US
dc.identifier.emailLam, CW: cwlam8@hku.hken_HK
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityTang, MHY=rp01701en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.3760/cma.j.issn.0366-6999.2011.02.016en_HK
dc.identifier.pmid21362373-
dc.identifier.scopuseid_2-s2.0-79551711674en_HK
dc.identifier.hkuros192455en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79551711674&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume124en_HK
dc.identifier.issue2en_HK
dc.identifier.spage237en_HK
dc.identifier.epage241en_HK
dc.identifier.isiWOS:000286787300016-
dc.publisher.placeChinaen_HK
dc.identifier.scopusauthoridSiu, WK=36194091800en_HK
dc.identifier.scopusauthoridMa, RCW=8151571700en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridYuen, YP=7003269011en_HK
dc.identifier.scopusauthoridLo, FMI=7005498838en_HK
dc.identifier.scopusauthoridChan, KW=35188519500en_HK
dc.identifier.scopusauthoridLam, SF=47861116800en_HK
dc.identifier.scopusauthoridLing, SC=7102701299en_HK
dc.identifier.scopusauthoridTong, SF=7201486672en_HK
dc.identifier.scopusauthoridSo, WY=7004974019en_HK
dc.identifier.scopusauthoridChow, CC=8252323700en_HK
dc.identifier.scopusauthoridTang, MHY=8943401300en_HK
dc.identifier.scopusauthoridTam, WH=7102605493en_HK
dc.identifier.scopusauthoridChan, AYW=7403167940en_HK

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