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 › peer-review

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

Bibliographical note

Funding Information:
This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (HI14C2119 to U.K.K). This work was also supported by the National Research Foundation of Korea (NRF) funded by the Ministry of Science, Information and Communications Technology (ICT) and Future Planning (2015R1A2A2A01003438 to U.K.K) and NRF grant funded by the Korean government (NRF-2014R1A1A2058141 to I.S.M).

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

All Science Journal Classification (ASJC) codes

Genetics
Oncology
Genetics(clinical)
Cancer Research

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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).",

author = "Borum Sagong and Seo, {Young Joon} and Lee, {Hyun Jin} and Kim, {Mi Joo} and Kim, {Un Kyung} and Moon, {In Seok}",

note = "Funding Information: This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (HI14C2119 to U.K.K). This work was also supported by the National Research Foundation of Korea (NRF) funded by the Ministry of Science, Information and Communications Technology (ICT) and Future Planning (2015R1A2A2A01003438 to U.K.K) and NRF grant funded by the Korean government (NRF-2014R1A1A2058141 to I.S.M). Publisher Copyright: {\textcopyright} 2016, Springer Science+Business Media Dordrecht.",

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AU - Kim, Un Kyung

AU - Moon, In Seok

N1 - Funding Information: This research was supported by a grant of the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), funded by the Ministry of Health and Welfare, Republic of Korea (HI14C2119 to U.K.K). This work was also supported by the National Research Foundation of Korea (NRF) funded by the Ministry of Science, Information and Communications Technology (ICT) and Future Planning (2015R1A2A2A01003438 to U.K.K) and NRF grant funded by the Korean government (NRF-2014R1A1A2058141 to I.S.M). Publisher Copyright: © 2016, Springer Science+Business Media Dordrecht.

PY - 2016/10/1

Y1 - 2016/10/1

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).

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

Abstract

Bibliographical note

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