D126N
Patients with either sporadic or familial pheochromocytoma or paraganglioma diagnosed at or referred to the Cliniques Universitaires Saint Luc (Universite´ catholique de Louvain) from May 2003 to May 2006 had DNA from peripheral blood screened for the coding parts of SDH, VHL and RET genes, performed by SSCP. A VHL germline mutation (D126N) was found in a Belgian patient with sporadic right jugulotympanic paraganglioma, diagnosed at 53, without any other VHL phenotypes. This patient was previously published in 12393546.