Whole exon genome sequence revealed germline heterozygous mutation of c.A175T (p.Ile59Phe) in PAX3 gene and somatic heterozygous mutation of c.1893_1898del (p. Asp631_Leu633delinsGlu) in RET gene in her pheochromocytoma. The gene discussed is PAX3; the disease is pheochromocytoma.