Abstract:
Background The 22q13.3 deletion is thought to be associated with autism spectrum disorder, and SHANK3 gene is suggested as the key gene, but the contribution of other genes to the disease is not clear.
Objective To analyze the genetic etiology of one child with autism, seizures and behavioral abnormality.
Methods A 6-year and 8-month-old boy who presented with motor delay and behavioral abnormalities was admitted to Peking University First Hospital in 2018. The patient was subjected to conventional G-banding chromosomal karyotyping and chromosomal microarray analysis (CMA). Databases and literatures were reviewed to clarify the significance of the missing fragments and pathogenic genes.
Results The karyotype of the child showed ring chromosome 22, and CMA identified a 4.9 Mb deletion at 22q13.3.
Conclusion The 22q13.3 microdeletion of this patient contains a key gene, SHANK3. The results may provide clues for his condition and genetic counseling for the family.