A novel mutation in CACNA1A associated with familial hemiplegic migraine / 中华检验医学杂志

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.