Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures.
10.3760/cma.j.cn511374-20200820-00614
- VernacularTitle:一个遗传性癫痫伴热性惊厥附加症家系的临床表型及
SCN1A基因变异分析
- Author:
Shaoxia SUN
1
;
Xiaoling LI
;
Jiguo SONG
;
Yufen LI
;
Liyun XU
;
Bing XIA
;
Ying HUA
;
Liping ZHU
;
Junlin WANG
Author Information
1. Linyi People's Hospital, Linyi, Shandong 276000, China. 312750100@qq.com.
- Publication Type:Journal Article
- MeSH:
Epilepsy/genetics*;
Humans;
NAV1.1 Voltage-Gated Sodium Channel/genetics*;
Pedigree;
Phenotype;
Seizures, Febrile/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(8):745-748
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+).
METHODS:Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.
RESULTS:The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.
CONCLUSION:The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.
