[Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene].

To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.Clinical data of the patient was collected. Genomic DNA of the patient and his parents was extracted and subjected to high-throughput sequencing. Pathogenicity of the variant was predicted and validated.Sequencing results showed that the patient has carried a de novo c.1470delA (p.V491Ffs*6) variant of the UBE3A gene, which was predicted to be pathogenic.The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.