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

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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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Acknowledgments

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).

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    Authors and Affiliations

    1. Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea

      Borum Sagong & Un-Kyung Kim

    2. Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea

      Young Joon Seo, Hyun-Jin Lee, Mi Joo Kim & In Seok Moon

    3. School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea

      Un-Kyung Kim

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    1. Borum Sagong
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    Correspondence to Un-Kyung Kim or In Seok Moon.

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    Borum Sagong and Young Joon Seo contributed equally to this work.

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    Sagong, B., Seo, Y.J., Lee, HJ. et al. A mutation of the succinate dehydrogenase B gene in a Korean family with paraganglioma. Familial Cancer 15, 601–606 (2016). https://doi.org/10.1007/s10689-016-9874-8

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