Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy

Zhang Chuan; Cai Ruikun; Li Qian; Mei Shiyue; Hao Shengju; Yuan Yong; Li Haibo; Xiao Neng; Zhao Yong; Xue Huiqin; Wang Weijia; Hui Ling; Zhou Bingbo; Qinghua Zhang; Wang Yan; Cao Zongfu; Ma Xu

doi:10.3389/fgene.2022.869210

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy

Front Genet. 2022 Apr 27:13:869210. doi: 10.3389/fgene.2022.869210. eCollection 2022.

Authors

Zhang Chuan^{1

2

3}, Cai Ruikun¹, Li Qian¹, Mei Shiyue⁴, Hao Shengju², Yuan Yong⁵, Li Haibo⁶, Xiao Neng⁷, Zhao Yong⁸, Xue Huiqin⁹, Wang Weijia⁵, Hui Ling², Zhou Bingbo², Qinghua Zhang², Wang Yan², Cao Zongfu^{1

3}, Ma Xu^{1

3}

Affiliations

¹ National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, China.
² Gansu Province Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
³ Graduate School of Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
⁴ Department of Intensive Care Unit, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
⁵ Zhongshan City People's Hospital, Affiliated Zhongshan Hospital of Sun Yat-Sen University, Guangzhou, China.
⁶ The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.
⁷ Department of Pediatric Neurology, Chenzhou First People's Hospital, Chenzhou, China.
⁸ Foshan Women and Children Hospital, Foshan, China.
⁹ Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, China.

Abstract

Background: Epilepsy in childhood is a common and diverse neurological disorder. We conducted a genetic and phenotype analysis of a Chinese cohort of infants and children with epilepsy. Methods: We conducted a pedigree analysis of 260 Chinese patients with epilepsy onset during infancy or childhood by whole exome sequencing (WES). Results: Of the 260 probands analyzed, a genetic diagnosis was established in 135 patients. One-hundred eighty-eight phenotypes were detected in those 135 positive/likely positive patients, 106 patients had more than two phenotypes, and 67 patients had more than three phenotypes. A total of 142 variants of 81 genes were detected among the positive/likely positive patients. Among these 142 variants, of which 87 of 66 genes were novel. Conclusion: Our findings extend the variant spectrum of genes related to epilepsy. Our results will be useful for genetic testing and counseling for patients with epilepsy.

Keywords: WES; genetics counseling; infant and children epilepsy; phenotypes; variant.