以肌营养不良症患者数据为指导,解读孕前女性人群 DMD 基因变异筛查。

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY Neurogenetics Pub Date : 2024-11-20 DOI:10.1007/s10048-024-00788-2
Lena Sagi-Dain, Annemieke Aartsma-Rus, Moran Echar, Julia Grinshpun-Cohen, Amihood Singer
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引用次数: 0

摘要

对健康女性进行 DMD 基因拷贝数变异的孕前人群筛查,对这些结果的解释和披露提出了许多挑战。我们的目的是分析来自当地肌营养不良症患者数据库的数据,并将其与人群筛查结果进行比较。通过肌营养不良症儿童 "小步快跑 "关联登记,我们对 231 名 DMD 和 90 名 BMD 男性患者的基因发现进行了分类(框架外、框架内或难以预测)。我们将此结果与之前发表的通过人群筛查发现的 162 名女性携带者进行了比较。被归类为 "难以预测 "的重复序列在 DMD/BMD 患者中不存在,而在人群筛查范围内分析的女性患者中,被归类为 "难以预测 "的重复序列占 45.1%(P<0.05)。
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Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.

Pregestational population screening of healthy females for copy number variants in DMD gene has raised numerous challenges regarding the interpretation and disclosure of these findings. Our objective was to analyze data from a local dystrophinopathy patient database, in comparison to population screening results. Utilizing the "Little steps" association registry for children with dystrophinopathy, we classified genetic findings (out-of-frame, in-frame, or difficult-to-predict) in 231 DMD and 90 BMD male patients. A comparison was made with a previously published cohort of 162 female carriers identified through population screening. Duplications classified as "difficult to predict" were absent in DMD/BMD patients, as opposed to 45.1% of women analyzed in the scope of population screening (p < 0.0001). While the distribution of deletions did not differ between the groups, significantly higher proportion of duplications initiated at the proximal hot spot in the DMD/BMD cohort (87.1%), vs. only 11.7% in women analyzed through population screening (p = 0.0038). Notably, duplications initiating in the dp427c promoter area were noted only in the latter cohort (n = 62). Local databases of dystrophinopathy patients can facilitate analysis and reporting of pregestational female population screening results. These conclusions facilitate future introductions of population screening genetic tests for diseases with variable presentation.

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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
期刊最新文献
Epigenetic dysregulation in glioblastoma: potential pathways to precision medicine. Understanding pathophysiology in fragile X syndrome: a comprehensive review. DHDDS-related epilepsy with hippocampal atrophy: a case report. Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene. Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.
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