Published in
Springer Verlag, Journal of Molecular Medicine, 4(91), p. 507-512
DOI: 10.1007/s00109-012-0967-z
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- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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A Novel EPAS1/HIF2A germline mutation in a Congenital Polycythemia with Paraganglioma
,
Mark Ng Tang Fui,
Mark Ng Tang Fui,
Hariprasad Vankayalapati,
Zhengping Zhuang,
Thanh Huynh,
Mathis Grossmann,
Karel Pacak,
Josef T. Prchal
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Abstract
Congenital polycythemias have diverse etiologies, including mutations in the hypoxia sensing pathway. These include HIF2A at exon 12, VHL gene (Chuvash polycythemia), and PHD2 mutations, which in one family was also associated with recurrent pheochromocytoma/paraganglioma (PHEO/PGL). Over the past two decades, we have studied seven unrelated patients with sporadic congenital polycythemia who subsequently developed PHEO/PGL with, until now, no discernible molecular basis. We now report a polycythemic patient with a novel germline HIF2AF374Y (exon 9) mutation, inherited from his mother, who developed PHEO/PGL.