[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2024-07-10 DOI:10.3760/cma.j.cn511374-20230428-00252

Shitao Wei, Xiaoli Huang, Luoxiao Qin, Mo Qin, Yilan Zhou, Bing Yu, Dejian Yuan, Rongsong Yi, Yang Tian

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引用次数: 0

Abstract

Objective: To explore the genetic basis for a child featuring global developmental delay and epilepsy.

Methods: A child who had presented at Guangzhou Women and Children's Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.

Results: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product.

Conclusion: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.

查看原文本刊更多论文

[分析一名因 SLC25A12 基因同源变异而患有发育障碍和癫痫的儿童]。

目的方法：选择 2023 年 2 月 19 日在广州市妇女儿童医疗中心柳州医院就诊的一名儿童作为研究对象：选取 2023 年 2 月 19 日在广州市妇女儿童医疗中心柳州医院就诊的一名儿童作为研究对象。收集患儿的临床资料。对患儿进行全外显子组测序，并通过 Sanger 测序和生物信息学分析验证候选变异：该患儿是一名8个月大的女孩，表现为全面发育迟缓、癫痫和高泌乳素血症。头颅磁共振成像（MRI）显示其患有多种髓鞘发育不全的白质营养不良症。脑电图显示背景活动缓慢。基因检测显示，她的 SLC25A12 基因存在一个同源变异，即 c.115T>G (p.Phe39Val)，她的父母都是该基因的杂合携带者。根据美国医学遗传学和基因组学学院（American College of Medical Genetics and Genomics）的指南，该变异被预测为意义不确定（PM2_支持+PM3_支持+PP3_中度+PP4_中度）。I-Mutant v3.0 软件预测该变异可能会影响蛋白质产物的稳定性：结论：SLC25A12基因的同源c.115T>G（p.Phe39Val）变异可能是该患儿发病的基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.