Association of <i>ABCA13</i> Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

Abstract

&lt;b&gt;&lt;i&gt;Introduction:&lt;/i&gt;&lt;/b&gt; Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by impaired social skills and limited or repetitive behaviors. In this study, we investigated the role of the &lt;i&gt;ABCA13&lt;/i&gt; gene in the etiopathogenesis of ASD. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; Single-nucleotide variants were evaluated in 79 ASD patients (59 males +20 females) with no established genetic etiology associated with ASD using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of these cases and their parents in detail. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; We presented 10 different &lt;i&gt;ABCA13&lt;/i&gt; gene variants in cases with ASD and 10 parents carrying the same &lt;i&gt;ABCA13&lt;/i&gt; gene variant. There of these variants were likely pathogenic and seven variants were classified as variant of uncertain significance. Our cases had a comorbidity rate for attention deficit hyperactivity disorder (ADHD) as 70%. Various types of neuropsychiatric symptoms and diagnoses were detected including ADHD, anxiety disorder, intellectual disability, delay in speech, and febrile convulsion among the parents. &lt;b&gt;&lt;i&gt;Conclusion:&lt;/i&gt;&lt;/b&gt; To date, very few variants have been reported in the &lt;i&gt;ABCA13&lt;/i&gt; gene. Our findings enrich the role of &lt;i&gt;ABCA13&lt;/i&gt; gene may play a common role in the landscape of neuropsychiatric disorders.