OA Autism


Causes & Prevalence

Butler MG, Rafi SK, Manzardo AM. Clinically relevant candidate and known genes for autism spectrum disorders (ASD) with representation on high resolution chromosome ideograms. OA Autism 2014 Mar 25;2(1):5.


In recent years, there has been an over-whelming interest in autism research relating to causation and generation of data linking various genes and pathways to the genetically heterogeneous group of disorders referred to as Autism Spectrum Disorders (ASD).  The list of autism related genes have significantly increased recently due to better awareness and advances in genetic technology along with expanding searchable genomic databases.  Therefore, we have compiled the latest list of highly validated and clinically relevant ASD genes from the medical literature and autism related public access websites dedicated to gene discovery and characterization. One of the important sources with description of ASD genes utilized in our study along with pertinent medical literature was the Simons Foundation Autism Research Institute (SFARI) autism database.  SFARI is an updated, publicly available, searchable curated website for use as an autism gene registry.  Our list consisted of the most clinically relevant 629 genes with their symbols placed on high resolution ideograms of human chromosomes enabling clinical geneticists, diagnostic laboratory geneticists, and genetic counselors to have a convenient visual image of the location of a particular ASD gene and the flanking ASD genes therein. Meaningful correlations of the observed phenotype with the suspected/detected ASD gene(s) at the chromosome region/breakpoint defect can be used to inform diagnosis, treatment and improve outcomes with gene-based personalized genetic counseling risk assessments and information for families.  This ideogram is combined with a table that includes the gene symbol and description along with the precise chromosome band/sub-band location for each gene.

Corresponding Author

Merlin G. Butler, MD, PhD. University of Kansas Medical Center, Departments of Psychiatry & Behavioral Sciences and Pediatrics, 3901 Rainbow Boulevard, MS 4015, Kansas City, Kansas 66160. Email: mbutler4@kumc.edu