Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma.

Gustavo F C FagundesFelipe Freitas-CastroLucas S SantanaAna Caroline F AfonsoJanaina PetenuciMariana F A FunariAugusto G GuimaraesFelipe L LedesmaMaria Adelaide A PereiraCarolina R VictorMarcela S M FerrariFernando M A CoelhoVictor SrougiFabio Y TannoJose L ChamboAna Claudia LatronicoBerenice B MendoncaMaria Candida B V FragosoAna O HoffMadson Queiroz Almeida

Published in: The Journal of clinical endocrinology and metabolism (2023)

The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.

Keyphrases

early onset
genome wide
gene expression
dna methylation
copy number
soft tissue