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

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

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.

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Bibliographic Details
Main Authors: Xiaoli Du, Cara L. Barnett, Kimberly M. Widmeyer, Xinjian Wang, Diana S. Brightman, Carolee W. Noonan, Kathryn N. Weaver, Robert J. Hopkin, Yaning Wu
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Clinical Case Reports
Subjects:
dual diagnosis
hearing loss
ovarian insufficiency
Perrault syndrome
PLN (phospholamban)
RMND1 (required for meiotic nuclear division 1 homolog)
Online Access:https://doi.org/10.1002/ccr3.9537
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Summary: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.
ISSN:2050-0904

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