Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.
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.
Niemann
Stephan
S
Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392, Giessen, Germany. Stephan.Niemann@humangenetik.med.uni-giessen.de
Müller
Ulrich
U
Engelhardt
Dieter
D
Lohse
Peter
P
D000328:Adult; D002345:Carotid Body Tumor / Q000235:genetics* / Q000378:metabolism; D002395:Catecholamines / Q000378:metabolism*; D005091:Exons; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007438:Introns; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*
D002395:Catecholamines; D008565:Membrane Proteins; D022821:RNA Splice Sites; C108096:SDHC protein, human; D013385:Succinate Dehydrogenase