Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC

@article{Niemann2003AutosomalDM,
  title={Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC},
  author={Stephan Niemann and Ulrich M{\"u}ller and Dieter Helmut Engelhardt and Peter Lohse},
  journal={Human Genetics},
  year={2003},
  volume={113},
  pages={92-94}
}
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. 
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