Searchable abstracts of presentations at key conferences in endocrinology

ea0086p156 | Adrenal and Cardiovascular | SFEBES2022

Whole genome sequencing and Sanger sequencing to identify novel mutations in adrenal tumours from cats with primary hyperaldosteronism

Watson Alice , Syme Harriet , Brown Morris

Primary Hyperaldosteronism (PA) is caused by adrenal tumours or bilateral adrenal hyperplasia (Djajadiningrat-Laanen et al., 2011) causing constitutive aldosterone production. Both germline and somatic mutations have been identified in human PA (Scholl, 2022). The commonest somatic mutations in benign tumours causing PA in humans include KCNJ5, CACNA1D, ATP1A1 and ATP2B3 (Williams et al., 2015). It is hypothesized that analogous somatic mutations arise in fel...