DUPLICATION OF EDA GENE IN A BOY WITH AUTISM SPECTRUM DISORDER AND DEVELOPMENTAL DELAY: MOLECULAR CYTOGENETIC, BIOINFORMATIC AND PSYCHOLOGICAL INVESTIGATION OF RARE GENOMIC PATHOLOGY
The paper presents a boy aged 6 years 10 months with severe speech and developmental delay, autism spectrum disorder (ASD) and other developmental abnormalities. Cytogenetic study using G-banding karyotyping did not reveal any aberrations. Using molecular karyotyping (array CGH), we found CNVs spanning Xq13.1, 10q26.13 and 17q21.31 regions. Determining the contribution of CNVs to the boy’s mental condition, we performed a bioinformatic analysis. An Xq13.1 region contains an EDA gene, mutations of which are associated with ectodermal dysplasia and tooth agenesis. Among other CNVs, we highlighted DHX8 (involved in embryogenesis and cell growth), ETV4 (activates the promoters of various matrix metalloproteinases), MEOX1 (contributes to somite development). Psychological characteristics of the child were assessed using special techniques. The result of CARS corresponded to severe autism, psychological and educational test (PEP) allowed us to determine general psychological age of the child and psychological development of the patient in different functional areas. It was assumed that ASD symptoms and ectodermal dysplasia were associated with EDA gene. It is shown that a complex of modern molecular cytogenetic, bioinformatic and psychological methods contributes to identification of causes in developmental disorders and an adequate assessment of mental disorders in genomic rearrangements, which in turn forms a basis for creating therapeutic strategies.