A novel mutation in CACNA1A associated with familial hemiplegic migraine

VernacularTitle:全基因组外显子测序联合连锁分析法进行家族性偏瘫性偏头痛致病基因 CACNA1 A新突变的研究
Author: Xiangqin LIU ; Xuntai MA ; Qiong DU ; Ning YAN
Publication Type:Journal Article
Keywords: Migraine with aura; Calcium channels; Mutation,missense
From: Chinese Journal of Laboratory Medicine 2016;39(9):705-709
CountryChina
Language:Chinese
Abstract: Objective To identify mutations of CACNA1A gene in a family with hemiplegic migraine.Methods Total genomic DNA was extracted from a family with 3 affected members and 1 000 healthy controls.The proband and his patient sister were subjected to exome sequencing.Ten family members including 3 patients were subjected to linkage analysis.The coding exons of the CACNA1A gene were amplified and sequenced in affected and normal individuals. Bioinformatics analysis were performed.Results A novel CACNA1A mutation was identified in the 3 patients.The nonsense mutation of A to G was detected at nucleotide 1168 ( c.1168A >G) which converted the Asn codon ( AAT) to Asp (GAT) in exon 8.Conclusion The mutation(N390D) detected in the present study is considered to result in the Chinese Hemiplegic migraine family.