System Maintenance Notice

Please note that maintenance work is scheduled between 4 AM and 5 AM - CET. During this time, you may experience reduced performance. Thanks for your patience.

Publications

Journal Article Epublish

PubMed: 40313595 DOI: 10.3389/fgene.2025.1474390

Identification of a novel homozygous nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay.

Front Genet 16:1474390

Authors: Hua He, Lijuan Long, Manling Tang, Qiang Xu, Shengwu Duan, Ge Chen, Yan Zhao, Qiongfang Wu, Jia Chen

Affiliations

  • Laboratory Medicine Center, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
  • Department of Critical Care Medicine, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
  • Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, Nanchang, China.
  • Department of Radiology, Zhuzhou Hospital Affiliated to Xiangya School of Medicine, Central South University, Zhuzhou, China.
  • Central Laboratory, Jiangxi Maternal and Child Health Hospital, Nanchang, China.

Abstract

Introduction

Biallelic loss-of-function variants in the (solute carrier family 13, member 5) gene are responsible for autosomal recessive developmental and epileptic encephalopathy 25 with amelogenesis imperfecta (DEE25). Until now, no pathogenic variants of has been reported among the Chinese population.

Methods

A Chinese Han pediatric patient with epilepsy and global developmental delay was described in this study. Trio-whole exome sequencing (WES) including the patient and her parents was performed to determine the genetic basis of the phenotype. Potential pathogenic variants were subsequently confirmed by Sanger sequencing. Additionally, we conducted an extensive review of the literature regarding variants to analyze their associated phenotypic characteristics.

Results

Trio-WES revealed a novel homozygous variant c.1705T>G in associated with clinical manifestations in the proband. The variant was also detected in her parents and unaffected sister, who were both heterozygous carriers. The variant is a nonstop substitution that is predicted to extend the SLC13A5 protein by 174 amino acids (p.569Gluext174). Analysis of previously published cases indicated that patient in our study exhibited overlapping symptoms.

Discussion

We identified a novel homozygous nonstop mutation in the gene of a Chinese patient with DEE25. This study expands the mutation spectrum of and will have significant implications for the proband's family in terms of medical management and genetic counseling.

MeSH

Genes, Brain Diseases, Exome Sequencing, Mutation