A Study On The Expression Of Related Genes In Autistic Children Of The Mongolian Nationality

Objective:Aims to identify the genes related to the pathogenesis of Mongolian autistic children,so as to provide more basis information for further mechanism validation studies.Methods:The subjects included in the present study comprised a group of five Mongolian children(3 males and 2 females),which are selected by ICD-10 and DSM-V,were diagnosed as autistic by two pediatricians at the age of 5 during January 2019 to December 2019.The present study was performed in accordance with the review board of Affiliated Hospital of Inner Mongolia University for Nationalities,and written informed consent was obtained from all study subjects.All procedures were performed according to the tenets of the Declaration of Helsinki.Peripheral blood(2ml)was collected in EDTA-coated tubes from available family members and stored at-80 C.Genomic DNA was extracted using standard protocols.Fragment libraries were constructed from each sample,following the IDT standard library preparation protocol for TruSeq(Illumina).5 participants exon capture was done with the IDT xGen Exome Research Panel kit(IDT).Following sequencing,high-quality reads were retrieved from raw reads by filtering out low-quality reads and adaptor sequences using the Solexa QA package and Cutadapt program(http://code.google.com/p/cutadapt/),respectively.Short Oligonucleotide Analysis Package(SOAP)aligner software(SOAP2.21;http://soap.genomics.org.cn/soapsnp.html)was then used to align the clean reads to the reference human genome(hg38).Polymerase chain reaction(PCR)duplicates were removed using the Picard program.Subsequently,single nucleotide polymorphisms(SNPs)were determined using the SOAPsnp program,reads were realigned using Burrows-Wheeler Aligner,and the deletions and insertions(InDels)were detected using Genome Analysis Toolkit software.The identified SNPs and InDels were annotated using the Exome-assistant program(http://122.228.158.106/exomeassistant).MagicViewer was used to view the short read alignment,and confirm the candidate SNPs and InDels.Non-synonymous variants were evaluated using the four algorithms,PolyPhen(http://genetics.bwh.harvard.edu/pph2/),Sorting Intolerant Form Tolerant[SIFT;(http://sift.jcvi.org/)],Protein Analysis Through Evolutionary Relationships(PATHER;www.pantherdb.org)and Pathogenic Mutation Prediction(Pmut;http://mmb.pcb.ub.es/PMut/)to determine pathogenicity.Results:Our study gives a preliminary understanding of the etiology and pathogenesis of Mongolian autistic children.The results shows that SC.NIA,PRUNE1,WDR45B,UNC80,FOXP2,RUSC2,FRMPD4,ANK3,IQSEC2,SYNGAP1 and CNKSR2 are related to the phenotype of the patients.These genes enrich the genetic database of Mongolian autistic children and give some clues for further study.Conclusion:The mutations of SCN1A,PRUNE1,WDR45B,UNC80,RUSC2,FRMPD4,ANK3,IQSEC2,SYNGAP1,FOXP2 and CNKSR2 were associated with Mongolian autistic children.