A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD

Early onset loss of developmental milestones with cerebellar atrophy and other described clinical findings ultimately warrant PLA2G6 gene sequencing. Here we report c.319 del. C of PLA2G6 detected by next generation sequencing to be responsible for severe early infantile neuroaxonal dystrophy with early infantile death. We conclude that various PLA2G6 gene sites sequencing need further investigation in INAD in line with clinical correlation. Also INAD seems to be an unrecognized disorder that needs more categorization for proper diagnosis and genetic counselling.