Back to Search
Start Over
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC
- Source :
- Human Genetics. 113:92-94
- Publication Year :
- 2003
- Publisher :
- Springer Science and Business Media LLC, 2003.
-
Abstract
- 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.
- Subjects :
- Adult
Biology
Carotid Body Tumor
Exon
Catecholamines
Splice Donor Site
Paraganglioma
Genetics
medicine
Humans
Transversion
Genetics (clinical)
Genes, Dominant
Intron
Membrane Proteins
Exons
medicine.disease
Magnetic Resonance Imaging
Molecular biology
Introns
Human genetics
Succinate Dehydrogenase
Mutation
Mutation (genetic algorithm)
Catecholamine
Female
RNA Splice Sites
medicine.drug
Subjects
Details
- ISSN :
- 14321203 and 03406717
- Volume :
- 113
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....443857b2c1f496c58b6e971ea941d261