[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene].

Q4 Medicine 中华医学遗传学杂志 Pub Date : 2024-10-10 DOI:10.3760/cma.j.cn511374-20231108-00235

Yongli Li, Yifan Yang, Jigang Qiu, Liangliang Lu

{"title":"[Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene].","authors":"Yongli Li, Yifan Yang, Jigang Qiu, Liangliang Lu","doi":"10.3760/cma.j.cn511374-20231108-00235","DOIUrl":null,"url":null,"abstract":"Objetive: To explore the clinical manifestations and genetic etiology of a Chinese pedigree affected with Familial focal epilepsy with variable foci (FFEVF).Methods: A FFEVF pedigree presented at the Department of Medical Genetics of Linyi Maternal and Child Health Care Hospital on March 14, 2023 was selected as the study subject. The proband was subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of the proband and other affected members and bioinformatic analysis. This study was approved by the Linyi Maternal and Child Health Care Hospital (Ethics No. QTL-YXLL-2023048).Results: WES revealed that the proband has harbored a heterozygous c.1642C>T (p.Arg548Cys) missense variant in exon 15 of the NPRL3 gene. Sanger sequencing confirmed that the variant was inherited from the proband's father, and multiple members of the pedigree had also harbored the same variant. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of unknown significance (PM2_supporting + PP3).Conclusion: The clinical phenotype of FFEVF patients caused by variants of NPRL3 gene is extensive, and the patients may present with neurological abnormality of autism spectrum disorder in addition to seizures.","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 10","pages":"1213-1217"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华医学遗传学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn511374-20231108-00235","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Objetive: To explore the clinical manifestations and genetic etiology of a Chinese pedigree affected with Familial focal epilepsy with variable foci (FFEVF).

Methods: A FFEVF pedigree presented at the Department of Medical Genetics of Linyi Maternal and Child Health Care Hospital on March 14, 2023 was selected as the study subject. The proband was subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of the proband and other affected members and bioinformatic analysis. This study was approved by the Linyi Maternal and Child Health Care Hospital (Ethics No. QTL-YXLL-2023048).

Results: WES revealed that the proband has harbored a heterozygous c.1642C>T (p.Arg548Cys) missense variant in exon 15 of the NPRL3 gene. Sanger sequencing confirmed that the variant was inherited from the proband's father, and multiple members of the pedigree had also harbored the same variant. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of unknown significance (PM2_supporting + PP3).

Conclusion: The clinical phenotype of FFEVF patients caused by variants of NPRL3 gene is extensive, and the patients may present with neurological abnormality of autism spectrum disorder in addition to seizures.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

[NPRL3基因变异导致的家族性局灶性癫痫变异灶的中国血统临床和遗传分析]。

目的方法：选取2023年3月14日在临沂市妇幼保健院医学遗传科就诊的一个家族性局灶性癫痫（FFEVF）血统，探讨其临床表现和遗传学病因：方法：选取2023年3月14日在临沂市妇幼保健院医学遗传科就诊的一个FFEVF家系作为研究对象。研究人员对该患者进行了全外显子组测序（WES）。通过对该患者及其他受影响成员进行 Sanger 测序和生物信息学分析，验证了候选变异。本研究获得了临沂市妇幼保健院的批准（伦理编号：QTL-YXLL-2023048）：WES显示，该患者的NPRL3基因第15外显子中存在一个杂合子c.1642C>T（p.Arg548Cys）错义变异。桑格（Sanger）测序证实，该变异是由患者的父亲遗传的，而且其血统中的多个成员也携带相同的变异。根据美国医学遗传学和基因组学学院（ACMG）的指导方针，该变异体被归类为意义不明的变异体（PM2_支持+PP3）：结论：由 NPRL3 基因变异引起的 FFEVF 患者的临床表型非常广泛，除癫痫发作外，患者还可能出现自闭症谱系障碍的神经系统异常。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

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.