%0 Case Reports
%T MED13 Gene Mutation Related to Autism Spectrum Disorder: A Case Report.
%A Rivera MD
%A Aponte SN
%A Rivera F
%A Arciniegas NJ
%A Carlo S
%J Cureus
%V 16
%N 5
%D 2024 May
%M 38854223
暂无%R 10.7759/cureus.59904
%X 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.