Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma

Abstract

<i>SDHD</i> truncating variants represent a distinct group, with a clinical phenotype reminiscent of but not identical to <i>SDHB</i>. We propose that surveillance and counselling of carriers of <i>SDHD</i> 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.