A novel mutation in CACNA1A associated with familial hemiplegic migraine

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.(Chin J Lab Med, 2016, 39: 705-709) Key words: Migraine with aura; Calcium channels; Mutation, missense