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, InSeok Moon

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)601-606
Number of pages6
JournalFamilial Cancer
Volume15
Issue number4
DOIs
Publication statusPublished - 2016 Oct 1

Fingerprint

Paraganglioma
Succinate Dehydrogenase
Germ-Line Mutation
Mutation
Thymine Nucleotides
Genes
Dilatation and Curettage
Ear Canal
Tinnitus
Exons
Neck
Head
Mothers

All Science Journal Classification (ASJC) codes

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

Cite this

Sagong, Borum ; Seo, Young Joon ; Lee, Hyun Jin ; Kim, Mi Joo ; Kim, Un Kyung ; Moon, InSeok. / A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma. In: Familial Cancer. 2016 ; Vol. 15, No. 4. pp. 601-606.
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A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma. / Sagong, Borum; Seo, Young Joon; Lee, Hyun Jin; Kim, Mi Joo; Kim, Un Kyung; Moon, InSeok.

In: Familial Cancer, Vol. 15, No. 4, 01.10.2016, p. 601-606.

Research output: Contribution to journalArticle

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

AU - Sagong, Borum

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AU - Lee, Hyun Jin

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AU - Kim, Un Kyung

AU - Moon, InSeok

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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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