Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene.
10.3760/cma.j.cn511374-20190912-00469
- Author:
Zaifen GAO
1
;
Yuqiang LYU
;
Kaihui ZHANG
;
Min GAO
;
Jian MA
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Epilepsy Center, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1120-1123
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese boy featuring developmental delay and epilepsy.
METHODS: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.
RESULTS: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.
CONCLUSION:The frameshift variant c.1470delA (p.V491Ffs*6) probably underlay the disorders in this child.
