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