Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort,Clinical Genetics

当前位置： X-MOL 学术 › Clin. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
Clinical Genetics ( IF 2.9 ) Pub Date : 2021-09-06 , DOI: 10.1111/cge.14061
Amelie T van der Ven ₁ , Jessika Johannsen ₂ , Fanny Kortüm ₁ , Matias Wagner _{3,

4} , Konstantinos Tsiakas ₂ , Tatjana Bierhals ₁ , Davor Lessel ₁ , Theresia Herget ₁ , Katja Kloth ₁ , Jasmin Lisfeld ₁ , Tasja Scholz ₁ , Nadia Obi ₅ , Saskia Wortmann _{3,

4,

6} , Holger Prokisch _{3,

4} , Christian Kubisch _{1,

7} , Jonas Denecke ₂ , René Santer _{2,

7} , Maja Hempel _{1,

7}

Affiliation

Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.

中文翻译：

大型神经儿科队列中线粒体疾病的患病率和临床预测

神经系统症状很常见，通常是儿童期发病的线粒体疾病 (MD) 的主要特征，但未选择的神经儿科患者中 MD 的确切发病率尚不清楚。由于潜在的快速临床衰退和管理选择的可用性，它们的早期发现是可取的。在 491 名有神经系统症状的儿童中，进行了包括外显子组测序在内的综合诊断检查。在我们的队列中，分子遗传学诊断的成功率为 51%。在 12% 的已解决病例中检测到线粒体相关基因中的致病变异。为了促进神经儿科队列中 MD 的临床识别，我们创建了一种易于使用的床边工具 MDC-NP。在我们的队列中，MDC-NP 预测与 MD 相关的疾病状况，敏感性为 0。

更新日期：2021-11-03

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11