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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| Format: | Article |
| Language: | English |
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Wiley
2024-11-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9537 |
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| author | Xiaoli Du Cara L. Barnett Kimberly M. Widmeyer Xinjian Wang Diana S. Brightman Carolee W. Noonan Kathryn N. Weaver Robert J. Hopkin Yaning Wu |
| author_facet | Xiaoli Du Cara L. Barnett Kimberly M. Widmeyer Xinjian Wang Diana S. Brightman Carolee W. Noonan Kathryn N. Weaver Robert J. Hopkin Yaning Wu |
| author_sort | Xiaoli Du |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-367293041785439bbba69aa6dc413483 |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-367293041785439bbba69aa6dc4134832025-08-20T01:53:30ZengWileyClinical Case Reports2050-09042024-11-011211n/an/a10.1002/ccr3.9537RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patientXiaoli Du0Cara L. Barnett1Kimberly M. Widmeyer2Xinjian Wang3Diana S. Brightman4Carolee W. Noonan5Kathryn N. Weaver6Robert J. Hopkin7Yaning Wu8Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USADivision of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USADivision of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio USAKey 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.https://doi.org/10.1002/ccr3.9537dual diagnosishearing lossovarian insufficiencyPerrault syndromePLN (phospholamban)RMND1 (required for meiotic nuclear division 1 homolog) |
| spellingShingle | Xiaoli Du Cara L. Barnett Kimberly M. Widmeyer Xinjian Wang Diana S. Brightman Carolee W. Noonan Kathryn N. Weaver Robert J. Hopkin Yaning Wu RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient Clinical Case Reports dual diagnosis hearing loss ovarian insufficiency Perrault syndrome PLN (phospholamban) RMND1 (required for meiotic nuclear division 1 homolog) |
| title | RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient |
| title_full | RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient |
| title_fullStr | RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient |
| title_full_unstemmed | RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient |
| title_short | RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient |
| title_sort | rmnd1 and pln variants are the underlying cause of perrault like syndrome and cardiac anomalies in a patient |
| topic | dual diagnosis hearing loss ovarian insufficiency Perrault syndrome PLN (phospholamban) RMND1 (required for meiotic nuclear division 1 homolog) |
| url | https://doi.org/10.1002/ccr3.9537 |
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