Abstract
β-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (Δ5′) and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The patients' genotypes were Δ5′/C1214T, and G890A/C1214T, respectively. As mutation C1214T (Pro405Leu) is also present in the other two late-onset cases so far described, we suggest that C1214T is a common mutation in this type of Sandhoff disease. Mutation G890A (Cys297Tyr) is a novel mutation which presumably causes altered processing of the pro β chain.
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Gomez-Lira, M., Sangalli, A., Mottes, M. et al. A common β hexosaminidase gene mutation in adult Sandhoff disease patients. Hum Genet 96, 417–422 (1995). https://doi.org/10.1007/BF00191799
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DOI: https://doi.org/10.1007/BF00191799