title: A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
abstract: beta-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (delta 5') and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The patients' genotypes were delta 5'/C1214%, 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 beta chain.
authors.affiliation: Istituto di Biologia e Genetica, Università di Verona, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: A
authors.initials: A
authors.lastname: Sangalli
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: C
authors.initials: C
authors.lastname: Perusi
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Salviati
mesh_terms: D000328:Adult; D001483:Base Sequence; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D001619:beta-N-Acetylhexosaminidases