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

Borum Sagong; Young Joon Seo; Hyun Jin Lee; Mi Joo Kim; Un Kyung Kim; In Seok Moon

doi:10.1007/s10689-016-9874-8

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

Borum Sagong, Young Joon Seo, Hyun Jin Lee, Mi Joo Kim, Un Kyung Kim, In Seok Moon

Department of Otorhinolaryngology

Research output: Contribution to journal › Article

4 Citations (Scopus)

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
Pages (from-to)	601-606
Number of pages	6
Journal	Familial Cancer
Volume	15
Issue number	4
DOIs	https://doi.org/10.1007/s10689-016-9874-8
Publication status	Published - 2016 Oct 1

All Science Journal Classification (ASJC) codes

Genetics
Oncology
Genetics(clinical)
Cancer Research

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Sagong, B., Seo, Y. J., Lee, H. J., Kim, M. J., Kim, U. K., & Moon, I. S. (2016). A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma. Familial Cancer, 15(4), 601-606. https://doi.org/10.1007/s10689-016-9874-8

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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).",

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AU - Moon, In Seok

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