Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.
Jean Pierre BayleyBirke BauschJohannes Adriaan RijkenLeonie Theresia van HulsteijnJeroen C JansenDavid AscherDouglas Eduardo Valente PiresFrederik J HesErik F HensenEleonora P M CorssmitPeter DevileeHartmut P H NeumannPublished in: Journal of medical genetics (2019)
SDHD truncating variants represent a distinct group, with a clinical phenotype reminiscent of but not identical to SDHB. We propose that surveillance and counselling of carriers of SDHD should be tailored by variant type. The clinical impact of truncating SDHx variants is distinct from missense variants and suggests that residual SDH protein subunit function determines risk and site of disease.