A novel genetic strategy to interrogate an unknown phenotypic modifier: Sdhc KO-Robertsonian mice develop frequent thyroid abnormalities with papillary thyroid carcinoma-like features.

Abstract excerpt

Genes encoding subunits of the mitochondrial tricarboxylic acid cycle enzyme complex succinate dehydrogenase (SDH) are a leading cause of the neuroendocrine tumour syndrome hereditary paraganglioma-pheochromocytoma. Pathogenic variants of SDHD and SDHAF2 confer a remarkable parent-of-origin tumour risk, in which paternally inherited variants cause tumours but maternally inherited variants do not. Formulated to...

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