Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

Abstract excerpt

The molecular defects in the HEXB gene encoding the common beta-subunit of lysosomal beta-hexosaminidase A (beta-Hex A, alpha beta) and beta-Hex B (beta beta) were investigated in a Portuguese family affected with late onset Sandhoff disease (GM2-gangliosidosis variant 0). This family comprised t...

Topics

• Adult
• Female
• Hexosaminidase B
• Homozygote
• Humans
• Male
• Pedigree
• Phenotype
• Point Mutation
• Polymorphism, Restriction Fragment Length
• Sandhoff Disease
• beta-N-Acetylhexosaminidases