1. Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2α mutation
by Daniel P. Gale, Sarah K. Harten, Cecil D. L. Reid, Edward G. D. Tuddenham, and Patrick H. Maxwell
Blood
Volume 112(3):
August 1, 2008
©2008 by American Society of Hematology

2. Data and findings for selected family members.
Data and findings for selected family members. (A) Family tree. (B) Hematological parameters in selected family members. I-2 was diagnosed with “heart failure” at age 62; echocardiography was not available. *Not contemporaneous measurements. – indicates data not available. (C) Genome-wide linkage to autosomal dominant erythrocytosis. (D) Parametric LOD score at region circled in red in panel C. (E) Sequencing trace of showing G/A heterozygosity at base 2097, predicting a change from glycine to arginine at residue 537, 6 codons from critical hydroxyl acceptor proline (underlined). (F) HRE-Firefly:Renilla luciferase activity following cotransfection of a plasmid containing the coding sequence of HIF2α with or without mutations shown. Results shown are means plus or minus SD of 3 independent experiments, each performed in triplicate.
Daniel P. Gale et al. Blood 2008;112:
©2008 by American Society of Hematology