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Article: Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Title | Molecular basis of von Hippel-Lindau syndrome in Chinese patients |
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Authors | |
Keywords | Chinese VHL gene VHL mutations Von Hippel-Lindau syndrome |
Issue Date | 2011 |
Publisher | Chinese 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? |
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>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 Identifier | http://hdl.handle.net/10722/139924 |
ISSN | 2023 Impact Factor: 7.5 2023 SCImago Journal Rankings: 0.997 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Siu, WK | en_HK |
dc.contributor.author | Ma, RCW | en_HK |
dc.contributor.author | Lam, CW | en_HK |
dc.contributor.author | Mak, CM | en_HK |
dc.contributor.author | Yuen, YP | en_HK |
dc.contributor.author | Lo, FMI | en_HK |
dc.contributor.author | Chan, KW | en_HK |
dc.contributor.author | Lam, SF | en_HK |
dc.contributor.author | Ling, SC | en_HK |
dc.contributor.author | Tong, SF | en_HK |
dc.contributor.author | So, WY | en_HK |
dc.contributor.author | Chow, CC | en_HK |
dc.contributor.author | Tang, MHY | en_HK |
dc.contributor.author | Tam, WH | en_HK |
dc.contributor.author | Chan, AYW | en_HK |
dc.date.accessioned | 2011-09-23T06:01:31Z | - |
dc.date.available | 2011-09-23T06:01:31Z | - |
dc.date.issued | 2011 | en_HK |
dc.identifier.citation | Chinese Medical Journal, 2011, v. 124 n. 2, p. 237-241 | en_HK |
dc.identifier.issn | 0366-6999 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/139924 | - |
dc.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>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.language | eng | en_US |
dc.publisher | Chinese Medical Association. The Journal's web site is located at http://www.cmj.org/ | en_HK |
dc.relation.ispartof | Chinese Medical Journal | en_HK |
dc.subject | Chinese | en_HK |
dc.subject | VHL gene | en_HK |
dc.subject | VHL mutations | en_HK |
dc.subject | Von Hippel-Lindau syndrome | en_HK |
dc.subject.mesh | Asian Continental Ancestry Group | en_HK |
dc.subject.mesh | DNA Mutational Analysis | en_HK |
dc.subject.mesh | Humans | en_HK |
dc.subject.mesh | Polymerase Chain Reaction | en_HK |
dc.subject.mesh | Sequence Analysis, DNA | en_HK |
dc.subject.mesh | Von Hippel-Lindau Tumor Suppressor Protein - genetics | en_HK |
dc.subject.mesh | von Hippel-Lindau Disease - genetics | en_HK |
dc.title | Molecular basis of von Hippel-Lindau syndrome in Chinese patients | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+patients | en_US |
dc.identifier.email | Lam, CW: cwlam8@hku.hk | en_HK |
dc.identifier.email | Tang, MHY: mhytang@hkucc.hku.hk | en_HK |
dc.identifier.authority | Lam, CW=rp00260 | en_HK |
dc.identifier.authority | Tang, MHY=rp01701 | en_HK |
dc.description.nature | link_to_OA_fulltext | - |
dc.identifier.doi | 10.3760/cma.j.issn.0366-6999.2011.02.016 | en_HK |
dc.identifier.pmid | 21362373 | - |
dc.identifier.scopus | eid_2-s2.0-79551711674 | en_HK |
dc.identifier.hkuros | 192455 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-79551711674&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 124 | en_HK |
dc.identifier.issue | 2 | en_HK |
dc.identifier.spage | 237 | en_HK |
dc.identifier.epage | 241 | en_HK |
dc.identifier.isi | WOS:000286787300016 | - |
dc.publisher.place | China | en_HK |
dc.identifier.scopusauthorid | Siu, WK=36194091800 | en_HK |
dc.identifier.scopusauthorid | Ma, RCW=8151571700 | en_HK |
dc.identifier.scopusauthorid | Lam, CW=34570692600 | en_HK |
dc.identifier.scopusauthorid | Mak, CM=34971727200 | en_HK |
dc.identifier.scopusauthorid | Yuen, YP=7003269011 | en_HK |
dc.identifier.scopusauthorid | Lo, FMI=7005498838 | en_HK |
dc.identifier.scopusauthorid | Chan, KW=35188519500 | en_HK |
dc.identifier.scopusauthorid | Lam, SF=47861116800 | en_HK |
dc.identifier.scopusauthorid | Ling, SC=7102701299 | en_HK |
dc.identifier.scopusauthorid | Tong, SF=7201486672 | en_HK |
dc.identifier.scopusauthorid | So, WY=7004974019 | en_HK |
dc.identifier.scopusauthorid | Chow, CC=8252323700 | en_HK |
dc.identifier.scopusauthorid | Tang, MHY=8943401300 | en_HK |
dc.identifier.scopusauthorid | Tam, WH=7102605493 | en_HK |
dc.identifier.scopusauthorid | Chan, AYW=7403167940 | en_HK |
dc.identifier.issnl | 0366-6999 | - |