Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients

Journal of Human Genetics
Pengjie WuKan Gong

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome caused by germline mutations in VHL tumor suppressor gene. It is characterized by hemangioblastoma in central nervous system and retina, renal cell carcinoma or cyst, pheochromocytoma, pancreatic cyst and tumor, endolymphatic-sac tumor, and papillary cystadenoma in epididymis and broad ligament. Here, we used PCR-direct sequencing and universal primer quantitative fluorescent multiplex PCR (UPQFM-PCR) to detect VHL mutations in 16 patients clinically diagnosed with VHL disease. PCR-direct sequencing detected 12 germline mutations (75%, 12/16), in which a novel mutation of c.451A>T/p.Ile151Phe found in one proband had not been reported previously. UPQFM-PCR found two large deletions (12.5%, 2/16). The two remaining patients carried non-typical disease-causing mutations, including one silent mutation (c.481C>A/p.Arg161Arg) and one mutation in 3'-UTR (c.642+70C>A). Remarkably, 56.3% (9/16) probands did not have family history of VHL disease, suggesting the higher frequency of de novo mutations in Chinese patients. We also summarized Chinese VHL disease patients with VHL mutation findings published in the literature to provide information about the sp...Continue Reading

References

Nov 1, 1990·The Quarterly Journal of Medicine·E R MaherM A Ferguson-Smith
Nov 1, 1995·Human Molecular Genetics·F M RichardsE R Maher
Oct 2, 2001·Survey of Ophthalmology·A D SinghJ A Shields
Jun 20, 2003·Lancet·Russell R LonserEdward H Oldfield
Oct 22, 2003·Journal of the American Society of Nephrology : JASN·William G Kaelin
May 9, 2006·Molecular Cell·Jae-Seok RoeHong-Duk Youn
Oct 7, 2006·Human Mutation·Kai Ren OngEamonn R Maher
Nov 15, 2006·Annals of the New York Academy of Sciences·An-Li TongWei Liang
May 1, 2008·Journal of Cancer Research and Clinical Oncology·Jin ZhangHanqing Xuan
Jan 10, 2009·Neurological Research·Xiao-Chun MaoYan-Jun Zeng
Mar 10, 2011·European Journal of Human Genetics : EJHG·Eamonn R MaherStéphane Richard

❮ Previous
Next ❯

Citations

Jul 6, 2013·Frontiers of Medicine·Jingyao ZhangChang Liu
Nov 13, 2012·Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·J ChenX Geng
Feb 14, 2013·Endocrine-related Cancer·Alberto CascónMercedes Robledo
Mar 4, 2014·Urology·Laura S Schmidt, W Marston Linehan
May 2, 2013·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Dandan JiaHong Jiang
May 9, 2015·Familial Cancer·Narendranath VikkathAshok B Pillai
Jun 27, 2017·American Journal of Medical Genetics. Part a·Karoline LaunbjergMarie Louise M Binderup
Mar 30, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sheng-Jie LiuKan Gong
Nov 23, 2017·Cold Spring Harbor Molecular Case Studies·Volkan Okur, Wendy K Chung
Jan 14, 2018·Journal of Medical Genetics·Jiang-Yi WangKan Gong
May 20, 2016·Sleep & Breathing = Schlaf & Atmung·Yayong Li, Yina Wang
Jun 7, 2021·Neuropathology and Applied Neurobiology·Leonille SchweizerDavid Capper

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.