Literature DB >> 26833045

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

Borum Sagong1, Young Joon Seo2, Hyun-Jin Lee2, Mi Joo Kim2, Un-Kyung Kim3,4, In Seok Moon5.   

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).

Entities:  

Keywords:  Germ-line mutation; Paraganglioma; Succinate dehydrogenase

Mesh：

Substances：

Year:  2016        PMID： 26833045     DOI： 10.1007/s10689-016-9874-8

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


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