A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.

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A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma.

Fam Cancer. 2016 Feb 1;

Authors: Sagong B, Seo YJ, Lee HJ, Kim MJ, Kim UK, Moon IS

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).

PMID: 26833045 [PubMed - as supplied by publisher]

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