Title
The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension
Publication Date
2014
Journal Title
Pediatr Blood Cancer
Abstract
von Hippel-Lindau (VHL) protein is the principal negative regulator of hypoxia sensing mediated by transcription factors. Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythemias. Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHL(D126N) mutation with congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who developed severe fatal pulmonary hypertension. In contrast to Chuvash polycythemia, erythroid progenitors (BFU-Es) did not reveal a marked EPO hypersensitivity. Further, NF-E2 and RUNX1 transcripts that correlate with BFU-Es EPO hypersensitivity in polycythemic mutations were not elevated.
Volume Number
61
Issue Number
11
Pages
2104-6
Document Type
Article
EPub Date
2014/04/15
Status
Faculty; Northwell Researcher
Facility
School of Medicine; Northwell Health
Primary Department
General Pediatrics
Additional Departments
Molecular Medicine
PMID
DOI
10.1002/pbc.25056