The homozygous VHLD126N missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe …

S Sarangi, L Lanikova, K Kapralova… - Pediatric blood & …, 2014 - Wiley Online Library
S Sarangi, L Lanikova, K Kapralova, S Acharya, S Swierczek, JM Lipton, L Wolfe, JT Prchal
Pediatric blood & cancer, 2014•Wiley Online Library
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 (VHLR200W) and Croatian (VHLH191D) polycythemias. Here, we describe an
infant of Bangladesh ethnicity with a novel homozygous VHLD126N mutation with
congenital polycythemia and dramatically elevated erythropoietin (EPO) levels, who
developed severe fatal pulmonary hypertension. In contrast to Chuvash polycythemia …
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 (VHLR200W) and Croatian (VHLH191D) polycythemias. Here, we describe an infant of Bangladesh ethnicity with a novel homozygous VHLD126N 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. Pediatr Blood Cancer 2014;61:2104–2106. © 2014 Wiley Periodicals, Inc.
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