Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders
10.3760/cma.j.issn.1003-9406.2019.11.014
- VernacularTitle: 一例婴儿癫痫伴发育障碍患儿的SYNE1基因变异分析
- Author:
Xinli ZHANG
1
;
Xueping SHEN
;
Liming PAN
;
Fengfeng QI
;
Guosong SHEN
Author Information
1. Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China
- Publication Type:Clinical Trail
- Keywords:
Epilepsy;
Developmental disorder;
Target region capture sequencing;
SYNE1 gene;
Gene variant
- From:
Chinese Journal of Medical Genetics
2019;36(11):1111-1114
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.
Methods:Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.
Results:The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.
Conclusion:A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
