Niemann Stephan, Müller Ulrich, Engelhardt Dieter, Lohse Peter
Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392, Giessen, Germany.
Hum Genet. 2003 Jul;113(1):92-4. doi: 10.1007/s00439-003-0938-0. Epub 2003 Mar 25.
Mutations in SDHC cause autosomal dominant paraganglioma, type 3 (PGL3), and have to date been demonstrated in only one family. Here, we report on a novel mutation in a patient with a malignant, catecholamine-producing paraganglioma at the carotid bifurcation. The mutation is a G-->T transversion at position +1 of intron 5 of the SDHC gene, leading to the deletion of exon 5 and a shift in the reading frame.
