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

Xiaoli Du; Cara L Barnett; Kimberly M Widmeyer; Xinjian Wang; Diana S Brightman; Carolee W Noonan; Kathryn N Weaver; Robert J Hopkin; Yaning Wu

doi:10.1002/ccr3.9537

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

Clin Case Rep. 2024 Oct 31;12(11):e9537. doi: 10.1002/ccr3.9537. eCollection 2024 Nov.

Authors

Xiaoli Du¹, Cara L Barnett¹, Kimberly M Widmeyer¹, Xinjian Wang¹, Diana S Brightman¹, Carolee W Noonan¹, Kathryn N Weaver², Robert J Hopkin², Yaning Wu²

Affiliations

¹ Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.
² Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USA.

Abstract

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