<i>TWNK</i> Gene Associated Perrault Syndrome Patient with Neurological Features

Abstract

Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (<i>TWNK</i>) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.