title: Identification of a novel duplication mutation in the VHL gene in a large Chinese family with Von Hippel-Lindau (VHL) syndrome.
abstract: Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina, renal cysts, clear cell renal cell carcinoma, and pheochromocytoma. VHL is caused by mutations in the VHL tumor suppressor gene. We attempted to detect mutation in the VHL gene in a 5-generation Chinese family with VHL. We identified a novel small duplication that altered the reading frame downstream and created a premature TGA stop signal, resulting in severely truncated pVHL30 (p.Gly114Serfs*50) and pVHL19 (p.Gly61Serfs*50). This change was predicted to be an elongin-binding domain deletion.
authors.affiliation: Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.
authors.forename: L H
authors.initials: LH
authors.lastname: Cao
authors.affiliation: Department of Genetic Research, Medical College of Nanchang University, Nanchang, Jiangxi, China bhkuang@aliyun.com.
authors.forename: B H
authors.initials: BH
authors.lastname: Kuang
authors.affiliation: Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.
authors.forename: C
authors.initials: C
authors.lastname: Chen
authors.affiliation: Department of Genetic Research, Medical College of Nanchang University, Nanchang, Jiangxi, China.
authors.forename: C
authors.initials: C
authors.lastname: Hu
authors.affiliation: Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Sun
authors.affiliation: Department of Genetic Research, Medical College of Nanchang University, Nanchang, Jiangxi, China.
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.affiliation: Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.
authors.forename: S S
authors.initials: SS
authors.lastname: Wang
authors.affiliation: Key Laboratory of Medical Cell Biology, The Research Center for Medical Genomics, Ministry of Education, China Medical University, Shenyang, Liaoning, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Luo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000235:genetics* / Q000473:pathology*
chemical_list: D018389:Codon, Nonsense; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human