(HEXB) Sandhoff Disease
• Cell line states: affected (N/I120V/5’end 16Kb del)
• Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2); also known as Sandhoff disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.