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并且这些变异是一名患者出现佩罗样综合征和心脏异常的根本原因。

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

作者信息

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

机构信息

Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA.

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

出版信息

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

DOI:10.1002/ccr3.9537
PMID:39493792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11527736/
Abstract

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

摘要

近期研究已证实某些变异与佩罗特综合征之间存在关联。在本病例报告中，我们呈现了一名患有佩罗特综合征和心肌病的女性患者，其病症分别由[具体基因1]和[具体基因2]的变异所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d20/11527736/8e21d8483d9e/CCR3-12-e9537-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d20/11527736/bd86860d0a80/CCR3-12-e9537-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d20/11527736/8e21d8483d9e/CCR3-12-e9537-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d20/11527736/bd86860d0a80/CCR3-12-e9537-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d20/11527736/8e21d8483d9e/CCR3-12-e9537-g001.jpg

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J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170.
2
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J Mol Med (Berl). 2023 Oct;101(10):1229-1236. doi: 10.1007/s00109-023-02356-x. Epub 2023 Aug 16.
3
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4
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Genes (Basel). 2020 Sep 8;11(9):1060. doi: 10.3390/genes11091060.
5
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.使用自动化变异优先级系统 EVIDENCE 进行全外显子组测序的诊断收益和临床实用性。
Clin Genet. 2020 Dec;98(6):562-570. doi: 10.1111/cge.13848. Epub 2020 Sep 17.
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