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 | |
| Publication status | Published - 2016 Oct 1 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Oncology
- Genetics(clinical)
- Cancer Research
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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 journal › Article
TY - JOUR
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, InSeok
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).
UR - http://www.scopus.com/inward/record.url?scp=84985881473&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84985881473&partnerID=8YFLogxK
U2 - 10.1007/s10689-016-9874-8
DO - 10.1007/s10689-016-9874-8
M3 - Article
C2 - 26833045
AN - SCOPUS:84985881473
VL - 15
SP - 601
EP - 606
JO - Familial Cancer
JF - Familial Cancer
SN - 1389-9600
IS - 4
ER -