[P2-188] A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 in association with severe intellectual disability and autistic features
[Introduction] Recently, many genomic copy number variations (CNV) have been identified as the genetic risk factors for neurodevelopmental/neuropsychiatric disorders. Through accumulation of variable CNVs data, candidate genes in the CNVs regions could be narrowed. [Methodology] Chromosomal microarray testing was performed for patients with intellectual disability associated with autistic features. This study was conducted in accordance with Helsinki declaration. After obtaining written informed consent, blood samples were accumulated from patients and their parents. [Results] A 4-year-old boy with severe intellectual disability (ID) and autistic features showed a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and other 11 genes were included. [Conclusions] GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for severe ID and autistic features observed in the present patient.