Causal gene identification in Chinese Alternating Hemiplegia of Childhood patients

Alternating hemiplegia of childhood (AHC, OMIM 614820) is a rare and severe neurological disorder. Recently Sodium-potassium (Na+/K+) ATPase alpha3 subunit (ATP1A3) has been identified as a causal gene for sporadic AHC by three groups. However there had been no large genetic study of Chinese cohort. Whole-exome sequencing of three trios and three sporadic cases in Chinese cohort produced an average of 18.8 gigabases of raw sequence. Through our analysis pipeline including BWA mapping, GATK recalibration, variant calling and filtering, all six patients contained missense mutations in ATP1A3 which were further confirmed as de novo mutations. Along with validation in more patients, this study confirmed ATP1A3 as a causal gene in Chinese AHC patients, and reported six novel mutations.