Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy.
- Author:
Qiong-xiang ZHAI
1
;
Chun WANG
;
Qian CHEN
;
Yu-xiong GUO
;
Zhi-hong CHEN
;
Yu-xin ZHANG
;
Juan GUI
;
Zhi-hong TANG
;
Mu-qing ZHUO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; Child; Child, Preschool; DNA Mutational Analysis; methods; Epilepsy, Frontal Lobe; genetics; Female; Genes, Dominant; Humans; Infant; Male; Mutation; Pedigree; Polymorphism, Single Nucleotide; Receptors, Nicotinic; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2013;30(6):662-665
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
METHODSTwo hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.
RESULTSThe results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.
CONCLUSIONThis results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.
