SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Jean Pierre BayleyBirke BauschJeroen C JansenErik F HensenKarin van der TuinEleonora Pm CorssmitPeter DevileeHartmut Ph NeumannPublished in: Journal of medical genetics (2021)
SDHB truncating variants convey an elevated risk for development of both PPGL and malignancy compared with missense variants. These results further support earlier robust associations between truncating variants and PPGL, and also suggest that the two variant types differ in their impact on complex II function, with PPGL/HNPGL tissues displaying differing sensitivities to changes in complex II function.