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Case Reports
. 2013 Sep;162(6):851-3.
doi: 10.1111/bjh.12431. Epub 2013 Jun 17.

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

Felipe R Lorenzo, Chunzhang Yang, Lucie Lanikova, Linda Butros, Zhengping Zhuang, Josef T Prchal
Case Reports

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia

Felipe R Lorenzo et al. Br J Haematol. 2013 Sep.
No abstract available

Keywords: erythrocytosis; genetics; molecular haematology; mutations; polycythaemia.

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Conflict of interest statement

Conflict of interest

The authors have no financial or competing interests to disclose.

Figures

Figure 1
Figure 1. Erythroid progenitor sensitivity assay of erythropoietin (EPO)
Burst-forming-unit-erythroid (BFU-E) colonies were enumerated and expressed as a percentage of maximum at stimulation with different EPO concentrations from each family member and controls.
Figure 2
Figure 2. VHL structural and functional studies
A–B: The efficient reduction of HIF1A by reintroduction of the VHL mutants into VHL-deficient 786-0 cells in contrast with wild-type and empty vector. C-D: Cyclohexamide (CHX) chase assay for protein half-life shows that mutant VHL proteins have decreased half-lives. 786-0 cells stably transfected with VHL variants and treated with CHX (200μM) for 4 h; hourly lysates were analysed by Western blot.
See this image and copyright information in PMC

References

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