De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction

Yucai Cheng; Lidan Zhang; Xueqiong Huang; Yuxin Pei; Miao Fan; Lingling Xu; Weiwei Gao; Wen Tang

De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction

Int J Clin Exp Pathol. 2017 Oct 1;10(10):10358-10362. eCollection 2017.

Authors

Yucai Cheng^{1

2}, Lidan Zhang¹, Xueqiong Huang¹, Yuxin Pei¹, Miao Fan³, Lingling Xu¹, Weiwei Gao⁴, Wen Tang¹

Affiliations

¹ Department of Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat-sen University Guangzhou, China.
² Department of Pediatrics, The Seventh Affiliated Hospital of Sun Yat-sen University Shenzhen, China.
³ Department of Radiology, The First Affiliated Hospital of Sun Yat-sen University Guangzhou, China.
⁴ Neonatal Department, Guangdong Provincial Women and Children's Hospital Guangzhou Guangzhou, China.

PMID: 31966371
PMCID: PMC6965773

Abstract

Early-onset epileptic encephalopathies (EOEEs) are a group of phenotypically and genetically heterogeneous neurodevelopmental disorders. Mutations of SCN2A, the gene encoding the aII subunit of the voltage-gated sodium channel (Nav1.2), have been detected in some EOEE patients. This report describes a 4-month-old female who presented with severe EOEE as well as bronchopulmonary dysplasia and adrenal hypofunction. Whole-exome sequencing revealed a novel missense mutation in SCN2A (c.1261T > G; p.L421V) that was not detected in either her parents or her brother. The mutation was confirmed by Sanger sequencing and characterized as pathogenic by several prediction programs. This finding of a de novo SCN2A mutation in an ethnic Chinese infant with EOEE as well as multi-organ dysfunction expands the phenotypic spectrum of SCN2A mutations.

Keywords: SCN2A; adrenal hypofunction; bronchopulmonary dysplasia; epileptic encephalopathy.