Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene
10.3760/cma.j.cn511374-20231108-00235
- VernacularTitle:NPRL3基因变异致家族局灶性癫痫伴可变灶一个家系的临床及遗传学分析
- Author:
Yongli LI
1
;
Yifan YANG
;
Jigang QIU
;
Liangliang LU
Author Information
1. 临沂市妇幼保健院医学遗传科，临沂 276000
- Keywords:
Familial focal epilepsy with variable foci;
NPRL3 gene;
Epilepsy;
Whole exome sequencing
- From:
Chinese Journal of Medical Genetics
2024;41(10):1213-1217
- CountryChina
- Language:Chinese
-
Abstract:
Objective: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 Medical Ethics Committee of 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.
