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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
Javier A Couto1, August Y Huang2, Dennis J Konczyk1
1Department of Plastic & Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
American Journal of Human Genetics
|February 14, 2017
Summary
Somatic mutations in the MAP2K1 gene are a common cause of extracranial arteriovenous malformations (AVMs). This endothelial cell dysfunction may be treatable with MEK1 inhibitors, offering a new therapeutic avenue for AVM patients.
Area of Science:
- Genetics
- Vascular Biology
- Oncology
Background:
- Arteriovenous malformations (AVMs) are congenital vascular anomalies that cause tissue destruction and cardiac overload.
- Current treatments for AVMs are limited, with frequent re-expansion after procedures and no available pharmacologic therapies.
