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

24729484

DOI

10.1002/pbc.25056

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