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与阅读障碍共病注意缺陷多动障碍相关的基因变异:一名巴基斯坦门诊患者的病例研究

Genetic Variants Linked to Dyslexia Co-Morbid ADHD: A Case Study of a Pakistani Outpatient.

作者信息

Haider Shujjah, Mondal Tanmoy, Nawaz Irum, Azam Maleeha, Ghosh Somiranjan

机构信息

Translational Genomic Laboratory, Department of Biosciences, COMSATS University Islamabad, 45550, Pakistan.

Department of Biology, Howard University, Washington DC 20059, USA.

出版信息

J Popul Ther Clin Pharmacol. 2024 Sep 2;31(9):2698-2711. doi: 10.53555/rd5d9s46. Epub 2024 Sep 22.

Abstract

Developmental Dyslexia (DD) and Attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders that often coexist and share complex genetic underpinnings. Our case study integrates psychological assessments and whole exome sequencing to explore the genetic basis of DD and ADHD co-occurrence in a single proband (a nine-year-old female born to healthy) from a consanguineous Pakistani family. We present a proband with symptoms of impulsivity, inattention, and severe hyperactive behavior, along with speech impairment and moderate learning disabilities. The study identified non-synonymous variations in genes associated with both disorders, such as , , and , , , , , and . Network analysis revealed key pathways like , , and shedding light on potential mechanisms underlying the observed phenotypes. The study emphasizes the complexity of these conditions and underscores the need for personalized interventions to address diagnosis challenges.

摘要

发育性阅读障碍(DD)和注意力缺陷多动障碍(ADHD)是经常共存且具有复杂遗传基础的神经发育障碍。我们的案例研究整合了心理评估和全外显子组测序,以探究来自巴基斯坦近亲家庭的一名先证者(一名九岁健康出生的女性)中DD和ADHD共病的遗传基础。我们展示了一名具有冲动、注意力不集中和严重多动行为症状的先证者,同时伴有言语障碍和中度学习障碍。该研究在与这两种疾病相关的基因中鉴定出非同义变异,如 、 、 、 、 、 、 和 。网络分析揭示了 、 和 等关键途径,为观察到的表型背后的潜在机制提供了线索。该研究强调了这些病症的复杂性,并强调需要个性化干预措施来应对诊断挑战。

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