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Hartmut P.H. Neumann, Zoran Erlic, Maternal Transmission of Symptomatic Disease with SDHD Mutation: Fact or Fiction?, The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 5, 1 May 2008, Pages 1573–1575, https://doi.org/10.1210/jc.2008-0569
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Paraganglioma syndrome (PGL) has been known as an inherited disorder for decades. However, it was not until the year 2000, when Bora Baysal identified the SDHD gene, the gene encoding the succinate dehydrogenase (SDH) subunit D, as the susceptibility gene for a subset of these families (1). Subsequently, germline mutations of genes encoding other subunits of SDH, the SDHC gene and the SDHB gene, have been identified in other families with PGL. The molecular classification differentiates familial paraganglioma into four types: PGL1 is associated with SDHD mutations; PGL3 is associated with SDHC mutations; PGL4 is associated with SDHB mutations; and, for PGL2, the susceptibility gene remains to be identified (1–4). SDHA is not a susceptibility gene for paraganglioma syndromes.
Clinical presentations of paraganglioma syndromes include head and neck paraganglioma; adrenal and extraadrenal retroperitoneal abdominal, pelvic, and thoracic pheochromocytom, and in some subtypes, gastrointestinal stromal tumors and clear cell renal carcinoma (5–9). The phenotypes overlap, and the unique differences are multiple tumors predominantly in PGL1, malignant paraganglial tumors mainly in PGL4, and prevalence of head and neck paragangliomas in PGL3 (5, 9–11).
