Neurodegeneration with brain iron accumulation 2A: Report of four independent cases

Abstract Neurodegeneration with brain iron accumulation-2A (NBIA2A, also called infantile neuroaxonal dystrophy) is an autosomal recessive disorder of the central nervous system (CNS) caused by mutations in PLA2G6 gene. The characteristic features of NBIA2A are progressive course of mental and motor regression, cerebellar ataxia, hypotonia, spastic tetraplegia, hyperreflexia and visual defects. In the present study we report four independent cases of NBIA2A whose genetic defects have been identified through whole exome sequencing. Three novel mutations and a previously reported mutation have been detected in PLA2G6 gene in these patients. Identification of these mutations facilitated effective genetic counseling and prenatal diagnosis in the families.