Pathogenic copy number variants (pCNVs) in individuals diagnosed on the autism spectrum disorder (ASD): A closer look at candidate genes

Abstract

Introduction: 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 (5). 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. Methods: here, the author reports pathogenic copy number variants (pcnVs) validated through array-comparative genomic hybridization (cgh) and the candidate genes found on these affected regions that may be implicated in the observed clinical phenotypes in 9 patients diagnosed with an Asd. formal clinical assessments, which include a full physical examination, a medical history report, and a family history, were administered by a clinical geneticist unaware of the array-cgh results. results: 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 nine affected patients. discussion: Among the candidate genes found, the CYFIP1 gene, which is involved in maturation and maintenance of dendrites, the gamma acid receptor family (GABA) which exhibit linkage disequilibrium with autistic disorders, and the PHF8 and WNK3 genes, which have been shown to be associated with X-linked mental retardation (XlMr), present the most interesting findings as they may account for most of the neurodevelopmental pathogenesis observed in the affected patients. future studies need to be conducted in order to precisely determine the networks these genes participate in and how they are regulated to gain a deeper understanding in the roles they play in the clinical presentations of affected individuals with Asds.