UBC Undergraduate Research

Pathogenic Copy Number Variants (pCNVs) in Individuals diagnosed on the Autism Spectrum Disorder (ASD): A Closer look at Candidate Genes Baniaga, Allan Dale


The genetic basis for autism spectrum disorders (ASDs) is well established, and its heterogenetic nature provides us with substantial evidence for the many chromosomal aberrations associated with this complex disorder. However, little is known about the genes that occupy the different chromosomal regions and the gene networks they participate in as they relate to phenotypes associated with ASDs. Here, the author reports candidate genes that may be implicated with the observed clinical phenotypes in 9 patients diagnosed with an ASD identified to have pathogenic copy number variants (pCNVs) through array-comparative genomic hybridization (CGH). Formal clinical assessments, which include a full physical examination, a medical history report, as well as a family history, were administered by a clinical geneticist unaware of the array-CGH results. Candidate genes were then compiled through the genome browser of the Database of Genomic Variants website and subsequently narrowed down utilizing the SUSPECTS database. Additional information on each candidate gene was obtained through the NCBI, iHOP, and metalife databases. The author’s findings suggest a number of genes involved in neurodevelopment as well as craniofacial and systemic features that may account for the observed phenotypes in the 9 affected patients.

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