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SDHAF2 gene

Mutations in this gene often lead to paraganglioma or pheochromocytoma.  These are tumors, that are commonly non-cancerous, that are often seen by the head or in the case of pheochromocytoma (PCC) on the adrenal glands.  These tumors cause hormones to be produced at abnormal rates and often lead to symptoms such as increased heart rate, blood pressure, and anxiety.  It is recommended that those with a mutation in this gene begin screening between the ages of 5 and 10.  These screening procedures include a blood pressure exam and physical every six to twelve month,  MRI or CT of the head, neck, abdomen, thorax, and pelvis/, and a yearly urinary excretion exam.  Mutations in the SDHAF2 gene are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.