RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient

Abstract

Key Clinical Message Recent studies have established an association between RMND1 variants and Perrault syndrome. In this case report, we present a female patient with Perrault syndrome and cardiomyopathy, resulting from variants in RMND1 and PLN, respectively.

Keywords

• dual diagnosis
• hearing loss
• ovarian insufficiency
• Perrault syndrome
• PLN (phospholamban)
• RMND1 (required for meiotic nuclear division 1 homolog)