Abstract
Familial paraganglioma (PGL) is a dominantly inherited disorder characterized by development of PGLs in the head and neck region. Germline mutations in genes coding for succinate dehydrogenase (SDH) subunits D, B, and C (SDHD, SDHB, SDHC) are found in almost all familial PGL patients. A 19-year-old female presented with pulsatile tinnitus and a reddish pulsating mass in the external auditory canal, and her mother complained of similar symptoms. Paraganglioma was found in both patients and was surgically removed. We report a case of germline SDHB mutation. This mutation was a deletion of thymine at nucleotide position 757 in exon 7 of the SDHB gene (c.757delT).
Original language | English |
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Pages (from-to) | 601-606 |
Number of pages | 6 |
Journal | Familial Cancer |
Volume | 15 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2016 Oct 1 |
Bibliographical note
Publisher Copyright:© 2016, Springer Science+Business Media Dordrecht.
All Science Journal Classification (ASJC) codes
- Genetics
- Oncology
- Genetics(clinical)
- Cancer Research