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About one child in 68 is affected by the autism spectrum disorder (ASD), one of the most common neurodevelopmental disorders linked to intellectual disability, especially in males, intellectual disability being diagnosable in about 60-70% of autistic individuals. The biological bases of ASD are not yet fully known, but they are generally considered multifactorial, although many genes and genomic loci have been proposed to be possibly associated with this condition. In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel ~ 270 kb interstitial microduplication, localized at the distal portion of the 4q13.1 region. The rearrangement was inherited from a mild symptomatic father and included a large part of the single EPHA5 gene, a receptor tyrosine kinase involved in the neural development, already indicated to be linked to ASD by previous Genome Wide Association Studies. This imbalance represents, to the best of our knowledge, the smallest duplication identified to date that only impacts the EPHA5 gene. We hypothesize that the duplication of this gene may alter EPHA5 expression and that this may impact the autistic phenotype of the patient.

Aim: To analyse the prevalence and the distribution of displaced, buccal/palatal maxillary canines, and the association with sagittal and vertical skeletal relationships in a southern Italian population., Materials and Methods: Consecutive records of patients were examined. Inclusion criteria were: age 7-12 years, 1-2 cervical vertebral maturation (CVM) stage, initial dental casts, intraoral photographs, panoramic, lateral and periapical radiographs. Subjects with at least one canine in Lindauer II, III or IV sector and/or α angle >31° were included in displaced maxillary canine (DMC) group, whereas those with both canines in sector I and α angle ≤31° were used as control group (CTR). According to canine bulges and/or x-ray examinations, DMC were then divided in palatal and buccal displaced canines (PDC/BDC). Sagittal and vertical skeletal relationships were evaluated using ANB and SN/GoMe angles. Chi-square tests were performed to compare the prevalence rates of skeletal features., Results: The sample consisted of 123 children, 40 DMC and 83 CTR. The DMC group included 11 PDC and 29 BDC subjects. The M:F ratio was 1:3 in PDC and BDC, 1:1 in CTR group. The unilateral-to-bilateral ratio was 1:1 and 3:1 in PDC and BDC subjects. The most common sector combination regarding unilateral and bilateral displacements was "II" and "II,II". PDC occurred more in Class I and in hyperdivergents, whereas BDC in Class I or II and in normodivergents., Conclusions: DMC occurred more often in females than in males. BDC was more common than PDC and unilateral displacements occurred more frequently than bilateral ones. No significant correlation with skeletal features was observed.