Autism Spectrum Disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
About one child in 68 is affected by the Autism Spectrum Disorder (ASD), one of the
most common brain development dysfunction linked with intellectual disability,
especially in males. The ASD biological basis are not yet fully known but they are
considered to be multifactorial. A large number of genes and genomic loci hav been
proposed as possibily associated with this condition and some of them could represent
major genetic putative determinants. In this report we describe the case of a 14-yearold
female Italian proband affected by ASD, carrying an undescribed ~270 Kb
interstitial microduplication, localized to the distal portion of the 4q13.1 region. The
aberration resulted inherited from a mild symptomatic father. This chromosome
structural anomaly resulted to include a large part of a single gene, that is EPHA5, a
receptor tyrosine kinase involved in neural development already indicated to be
connected with ASD by previous Genome Wide Association Studies (GWAS).
Considering the very reduced size of the novel disclosed duplication embedding the
sole EPHA5 gene, we could hypothesize that this gene duplication may result
deleterious for its expression and then that it could be anyway involved in the determinism of the patient autistic phenotype.