PDF(Pubmed)
Abstract：
This case report highlights an association between the MED13 gene and autism spectrum disorder (ASD). ASD is a neurodevelopmental disorder characterized by impaired social interactions, communication difficulties, and repetitive behaviors. The MED13 gene encodes a subunit of the Mediator complex, which plays a key role in gene expression regulation and transcriptional processes. In this case report, we present a case of a child diagnosed with ASD who underwent whole exome sequencing (WES) and revealed an uncertain heterozygous variant in the MED13 gene. The patient exhibited typical features of ASD, including the following: social and communication deficits, restricted interests, repetitive behaviors, and characteristic dysmorphic facial features. The identification of this MED13 gene variant provides further evidence of its potential involvement in ASD pathogenesis. This case adds to the growing body of evidence linking MED13 gene mutations to ASD susceptibility. Understanding the genetic basis of ASD through case reports can aid in early diagnosis, personalized treatment strategies, and genetic counseling for affected individuals and their families. Further research is warranted to explain the precise mechanisms underlying MED13 gene involvement in ASD.
摘要：
该病例报告强调了MED13基因与自闭症谱系障碍（ASD）之间的关联。ASD是一种以社会交往受损为特征的神经发育障碍,沟通困难,重复的行为。MED13基因编码Mediator复合物的一个亚基，在基因表达调控和转录过程中起着关键作用。在这个案例报告中,我们介绍了一例诊断为ASD的儿童,该儿童接受了全外显子组测序(WES),发现MED13基因存在不确定的杂合变异.患者表现出典型的ASD特征，包括以下内容:社会和沟通缺陷，利益受限,重复的行为，和特征性的畸形面部特征。该MED13基因变体的鉴定提供了其潜在参与ASD发病机理的进一步证据。这种情况增加了越来越多的证据，将MED13基因突变与ASD易感性联系起来。通过病例报告了解ASD的遗传基础有助于早期诊断。个性化治疗策略，和遗传咨询受影响的个人和他们的家庭。需要进一步的研究来解释MED13基因参与ASD的确切机制。
