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Article: Molecular basis of von Hippel-Lindau syndrome in Chinese patients
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TitleMolecular basis of von Hippel-Lindau syndrome in Chinese patients
 
AuthorsSiu, WK3
Ma, RCW4
Lam, CW1
Mak, CM3
Yuen, YP3
Lo, FMI2
Chan, KW3
Lam, SF3
Ling, SC3
Tong, SF1
So, WY4
Chow, CC4
Tang, MHY5
Tam, WH4
Chan, AYW3
 
KeywordsChinese
VHL gene
VHL mutations
Von Hippel-Lindau syndrome
 
Issue Date2011
 
PublisherZhonghua Yixuehui. The Journal's web site is located at http://med.wanfangdata.com.cn/Paper/PeriodicalInfo.aspx?periodicalID=zhcmj
 
CitationChinese Medical Journal, 2011, v. 124 n. 2, p. 237-241 [How to Cite?]
DOI: http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2011.02.016
 
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.
 
DescriptionEnglish Edition
 
ISSN0366-6999
2012 Impact Factor: 0.901
2012 SCImago Journal Rankings: 0.336
 
DOIhttp://dx.doi.org/10.3760/cma.j.issn.0366-6999.2011.02.016
 
ISI Accession Number IDWOS:000286787300016
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorSiu, WK
 
dc.contributor.authorMa, RCW
 
dc.contributor.authorLam, CW
 
dc.contributor.authorMak, CM
 
dc.contributor.authorYuen, YP
 
dc.contributor.authorLo, FMI
 
dc.contributor.authorChan, KW
 
dc.contributor.authorLam, SF
 
dc.contributor.authorLing, SC
 
dc.contributor.authorTong, SF
 
dc.contributor.authorSo, WY
 
dc.contributor.authorChow, CC
 
dc.contributor.authorTang, MHY
 
dc.contributor.authorTam, WH
 
dc.contributor.authorChan, AYW
 
dc.date.accessioned2011-09-23T06:01:31Z
 
dc.date.available2011-09-23T06:01:31Z
 
dc.date.issued2011
 
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.
 
dc.description.naturelink_to_OA_fulltext
 
dc.descriptionEnglish Edition
 
dc.identifier.citationChinese Medical Journal, 2011, v. 124 n. 2, p. 237-241 [How to Cite?]
DOI: http://dx.doi.org/10.3760/cma.j.issn.0366-6999.2011.02.016
 
dc.identifier.doihttp://dx.doi.org/10.3760/cma.j.issn.0366-6999.2011.02.016
 
dc.identifier.epage241
 
dc.identifier.hkuros192455
 
dc.identifier.isiWOS:000286787300016
 
dc.identifier.issn0366-6999
2012 Impact Factor: 0.901
2012 SCImago Journal Rankings: 0.336
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid21362373
 
dc.identifier.scopuseid_2-s2.0-79551711674
 
dc.identifier.spage237
 
dc.identifier.urihttp://hdl.handle.net/10722/139924
 
dc.identifier.volume124
 
dc.languageeng
 
dc.publisherZhonghua Yixuehui. The Journal's web site is located at http://med.wanfangdata.com.cn/Paper/PeriodicalInfo.aspx?periodicalID=zhcmj
 
dc.publisher.placeChina
 
dc.relation.ispartofChinese Medical Journal
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAsian Continental Ancestry Group
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshHumans
 
dc.subject.meshPolymerase Chain Reaction
 
dc.subject.meshSequence Analysis, DNA
 
dc.subject.meshVon Hippel-Lindau Tumor Suppressor Protein - genetics
 
dc.subject.meshvon Hippel-Lindau Disease - genetics
 
dc.subjectChinese
 
dc.subjectVHL gene
 
dc.subjectVHL mutations
 
dc.subjectVon Hippel-Lindau syndrome
 
dc.titleMolecular basis of von Hippel-Lindau syndrome in Chinese patients
 
dc.typeArticle
 
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<contributor.author>Yuen, YP</contributor.author>
<contributor.author>Lo, FMI</contributor.author>
<contributor.author>Chan, KW</contributor.author>
<contributor.author>Lam, SF</contributor.author>
<contributor.author>Ling, SC</contributor.author>
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<description.abstract>Background 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&gt;T, was novel. The other seven VHL mutations, c.233A&gt;G [p.Asn78Ser], c.239G&gt;T [p.Ser80Ile], c.319C&gt;G [p.Arg107Gly], c.481C&gt;T [p.Arg161X], c.482G&gt;A [p.Arg161Gln], c.499C&gt;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.</description.abstract>
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Author Affiliations
  1. The University of Hong Kong Li Ka Shing Faculty of Medicine
  2. Clinical Genetic Service
  3. Princess Margaret Hospital Hong Kong
  4. Prince of Wales Hospital Hong Kong
  5. Tsan Yuk Hospital