异位脑内钙化的基因组诊断。

IF 3.3 3区医学 Q2 CLINICAL NEUROLOGY Neurology-Genetics Pub Date : 2023-08-02 eCollection Date: 2023-10-01 DOI:10.1212/NXG.0000000000200083

Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo Toro

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引用次数: 0

摘要

背景和目的：基底节、丘脑、小脑或白质的异位脑内钙化（EICs）在各种疾病状态下都可以看到，或者可能在脑成像中偶然发现。可归因于潜在遗传原因的病例的临床意义和比例尚不清楚。方法：这项回顾性队列研究详细介绍了44名EICs患者的临床、影像学和基因组学发现，尽管进行了广泛的医学检查，但这些患者没有明确的诊断。结果：44名患者中，共有15人通过基因组测试得到诊断，解释了他们的钙化，另有2人得到了以前与EICs无关的诊断。15个基因中有6个基因（PDGFB、PDGFRB、SLC20A2和XPR1）通常与表型术语“特发性基底节钙化”相关。讨论：这些发现支持对有症状的EICs患者进行基因组检测。

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Genomic Diagnoses for Ectopic Intracerebral Calcifications.

Background and objectives: Ectopic intracerebral calcifications (EICs) in the basal ganglia, thalamus, cerebellum, or white matter are seen in a variety of disease states or may be found incidentally on brain imaging. The clinical significance and proportion of cases attributable to an underlying genetic cause is unknown.

Methods: This retrospective cohort study details the clinical, imaging, and genomic findings of 44 patients with EICs who had no established diagnosis despite extensive medical workup.

Results: In total, 15 of 44 patients received a diagnosis through genomic testing explaining their calcifications, and 2 more received a diagnosis that has not been previously associated with EICs. Six of the 15 were found to have one of the 4 genes (PDGFB, PDGFRB, SLC20A2, and XPR1) conventionally associated with the phenotypic term "idiopathic basal ganglia calcifications."

Discussion: These findings support the use of genomic testing for symptomatic patients with EICs.

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来源期刊

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.