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[Structural variations of the genome in autistic spectrum disorders with intellectual disability]
I Yu Iourov1, S G Vorsanova2, S A Korostelev3
1Mental Health Research Center, Moscow, Russia; Veltishev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Moscow, Russia; Russian Medical Academy of Postgraduate Education, Moscow, Russia.
Aim:
To analyze structural variations in the genome in children with autism and intellectual disability.
Material And Methods:
Using high-resolution karyotyping (AffymetrixCytoScan HD Array) and original bioinformatic technology, 200 children with autism and intellectual disability were studied.
Results And Conclusion:
Data on structural variations in the genome in children with autism and intellectual disability are provided. Causative genomic pathology (chromosome abnormalities and copy number variations - CNV) was determined in 97 cases (48.5%). Based on these
Results:
24 candidate genes for autism with intellectual disability were selected. In 16 cases (8%), the chromosome mosaicism manifested as aneuploidy of whole autosomes and sex chromosomes (gonosomes) was identified. In 87 children (43.5%), there were genomic variations, which are characteristic of the so-called «grey zone» of genetic pathology in mental illnesses. Bioinformatic analysis showed that these genomic variations had a pleiotropic effect on the phenotype.
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