Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer-Reference-Cited by-同舟云学术

Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer

Published:2013-05-09 Issue:19 Volume:121 Page:3918-3924
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Lanikova Lucie¹²,Lorenzo Felipe¹,Yang Chunzhang³,Vankayalapati Hari⁴,Drachtman Richard⁵,Divoky Vladimir²,Prchal Josef T.¹

Affiliation:

1. Division of Hematology, University of Utah and VA Health Care, Salt Lake City, UT;

2. Department of Biology, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic;

3. Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD;

4. Huntsman Cancer Institute, Salt Lake City, UT; and

5. Cancer Institute of New Jersey, Robert Wood Johnson Medical School, New Brunswick, NJ

Abstract

Key Points We describe a novel homozygous mutation in exon 2 of the VHL gene causing congenital polycythemia. We demonstrate the VHLP138L effect on the augmentation of erythropoiesis, along with structural and functional studies of this mutation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/121/19/3918/1218462/3918.pdf

Reference30 articles.

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4. Nichols K Zelley K Hereditary Cancer Predisposition Program at the Cancer Center. Von Hippel-Lindau (VHL) syndrome. http://www.chop.edu/service/oncology/our-programs/hereditary-cancer-predisposition-program/genetic-syndromes-with-cancer-risks/von-hippel-lindau-syndrome.html. Accessed February 18, 2013

5. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.;Ang;Nat Genet,2002

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