Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Debra M GordonPablo BeckersEmilie CastermansSebastian J C M M NeggersLiliya RostomyanVincent BoursPatrick PetrossiansVinciane DidebergAlbert BeckersAdrian F DalyPublished in: Endocrine connections (2022)
This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3 SDHB deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in SDHx genes.