中华医学杂志（英文版）2011，Vol.124Issue(2)：237-241,5.DOI:10.3760/cma.j.issn.0366-6999.2011.02.016
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
SIU Wai-kwan 1TONG Sui-fan 2SO Wing-yee 3CHOW Chun-chung 3TANG Mary Hoi-yin 4TAM Wing-hung 5CHAN Albert Yan-wo 1MA Ronald Ching-wan 3LAM Ching-wan 2MAK Chloe Miu 1YUEN Yuet-ping 1LO Fai-man Ivan 6CHAN Kin-wah 7LAM Siu-fung 7LING Siu-cheung8
作者信息
- 1. Department of Pathology,Princess Margaret Hospital,Hong Kong,China
- 2. Department of Pathology,Li Ka Shing Faculty of Medicine,The University of Hong Kong,Queen Mary Hospital,Hong Kong,China
- 3. Department of Medicine & Therapeutics,The Chinese University of Hong Kong,Prince of Wales Hospital,Hong Kong,China
- 4. Department of Obstetrics & Gynaecology,Tsan Yuk Hospital,Hong Kong,China
- 5. Department of Obstetrics & Gynaecology,The Chinese University of Hong Kong,Prince of Wales Hospital,Hong Kong,China
- 6. Clinical Genetic Service,Department of Health,Hong Kong,China
- 7. Department of Medicine and Geriatrics,Princess Margaret Hospital,Hong Kong,China
- 8. Department of Paediatrics and Adolescent Medicine,Princess Margaret Hospital,Hong Kong,China
- 折叠
摘要
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.Ser80lle],c.319C＞G [p.Arg107Gly],c.481C＞T [p.Arg161X],c.482G＞A [p.Arg161GIn],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.关键词
von Hippel-Lindau syndrome/VHL gene/Chinese/VHL mutationsKey words
von Hippel-Lindau syndrome/VHL gene/Chinese/VHL mutations引用本文复制引用
SIU Wai-kwan,TONG Sui-fan,SO Wing-yee,CHOW Chun-chung,TANG Mary Hoi-yin,TAM Wing-hung,CHAN Albert Yan-wo,MA Ronald Ching-wan,LAM Ching-wan,MAK Chloe Miu,YUEN Yuet-ping,LO Fai-man Ivan,CHAN Kin-wah,LAM Siu-fung,LING Siu-cheung..Molecular basis of von Hippel-Lindau syndrome in Chinese patients[J].中华医学杂志（英文版）,2011,124(2):237-241,5.
