Project description

We have identified a sex-reversed XY female patient with early onset Parkinson’s disease (PD). Through whole exome sequencing, it was discovered that this patient harbours a missense mutation in the estrogen receptor beta (ERβ) gene, ESR2. Due to estrogen’s important functions in both sex determination and in neuroprotection, it is suggested that this mutation might have a function in both aspects of this patient’s unusual phenotype. This project will investigate the function of the ERβ variant in in vitro models of Parkinson’s disease and gonadal development.