Identification of a novel HEXB Mutation in an Iranian Family with suspected patient to GM2‐gangliosidoses

Abstract

The GM2-gangliosidoses are autosomal recessive metabolic diseases caused by a reduced ability to metabolize the GM2ganglioside and result in ganglioside accumulation especially in the central nervous system. 1,2 The disorders show a spectrum of clinical severity. Generally, the earlier the age of onset of clinical symptoms is associated with the more severe form of the disease. 3 The GM2-gangliosidoses are caused by mutations in the genes encoding the subunit α (HEXA gene) or subunit β (HEXB gene) of heterodimeric b-hexosaminidase A (HEX A), or its cofactor (the GM2 activator