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

Kyungpook National University
Yonsei University

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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
State	Published - 1 Oct 2016

Bibliographical note

Publisher Copyright:
© 2016, Springer Science+Business Media Dordrecht.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Germ-line mutation
Paraganglioma
Succinate dehydrogenase

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10.1007/s10689-016-9874-8

Cite this

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title = "A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma",

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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doi = "10.1007/s10689-016-9874-8",

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T1 - A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma

AU - Sagong, Borum

AU - Seo, Young Joon

AU - Lee, Hyun Jin

AU - Kim, Mi Joo

AU - Kim, Un Kyung

AU - Moon, In Seok

PY - 2016/10/1

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N2 - 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).

AB - 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).

KW - Germ-line mutation

KW - Paraganglioma

KW - Succinate dehydrogenase

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DO - 10.1007/s10689-016-9874-8

M3 - Article

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AN - SCOPUS:84985881473

SN - 1389-9600

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JF - Familial Cancer

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ER -

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

Abstract

Bibliographical note

UN SDGs

Keywords

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