A New De Novo Mutation in Htra1 Gene Associated With Painful Ataxia, Developmental Delay, and Autistic Behaviors Symptoms in An Iranian Boy Through Whole Exome Sequencing Followed by Homology Modeling

Abstract

1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which happens frequently even among family members, increases the complexity of diagnosis. 1.2. Methods: In vitro analysis was carried out by Whole Exome Sequencing (WES) for a 2-year-old boy. He had ataxia, developmental delay, delayed speech and language development, and autistic behaviors. Mutational confirmations were also done on both of his parents to find the genotypes. Also, bioinformatics predictions were performed by SWISS-MODEL, ProSA, Molprobity, and superimposition through MatchMaker in Chimera ver. 1.16.