Novel SGCE Mutation in a Patient With Myoclonus-Dystonia: A Case Report.

IF 3 3区 医学 Q2 CLINICAL NEUROLOGY
Neurology-Genetics Pub Date : 2024-03-07 eCollection Date: 2024-04-01 DOI:10.1212/NXG.0000000000200128
Eva Klinman, Catherine Gooch, Joel S Perlmutter, Albert A Davis, Baijayanta Maiti
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引用次数: 0

Abstract

Objectives: Characterize the presentation, workup, and management of SGCE myoclonus-dystonia, a rare genetic condition, in a patient with atypical presenting symptoms and no family history of movement abnormalities.

Methods: A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT-SGCE that account for only half of the total myoclonus-dystonia patients. As such, this case required intensive genetic analyses rather than screening only for a small subset of well-characterized mutations.

Results: Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the SGCE gene, resulting in a diagnosis of SGCE myoclonus-dystonia.

Discussion: Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.

肌阵挛患者的新型 SGCE 基因突变:病例报告
目标:描述 SGCE 肌阵挛-肌张力障碍这种罕见遗传病的表现、检查和治疗:方法:根据临床病史和体格检查,确定一名患有肌阵挛和肌张力障碍的女性患者:根据临床病史和体格检查,确定了一名患有肌阵挛和肌张力障碍的女性患者。方法:根据临床病史和体格检查确定了一名患有肌阵挛和肌张力障碍的女性患者,并对其进行了包括全基因组测序在内的检查,以确定其症状的病因。肌阵挛与MYC/DYT-SGCE的100多个不同突变有关,而这些突变仅占肌阵挛患者总数的一半。因此,该病例需要进行深入的基因分析,而不是只筛查一小部分特征明确的突变:结果:在一名年轻女性身上发现了儿童期发病的肌阵挛和随着年龄增长而恶化的肌张力障碍。她接受了抽动运动常见病因的筛查,随后进行了全外显子组测序,发现了 SGCE 基因中的一个新变异,最终诊断为 SGCE 肌阵挛-肌张力障碍:讨论:早期出现头部和上肢肌阵挛症状的患者,尤其是同时伴有肌张力障碍的患者,即使没有类似症状的家族史,也应考虑肌阵挛-肌张力障碍。由于不断有新的基因突变被发现,因此应通过测序来诊断这种疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Neurology-Genetics
Neurology-Genetics Medicine-Neurology (clinical)
CiteScore
6.30
自引率
3.20%
发文量
107
审稿时长
15 weeks
期刊介绍: Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
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