TY - JOUR
T1 - Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
AU - Silvestri, Gabriella
PY - 2007
Y1 - 2007
N2 - We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit.
AB - We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, changing a conserved aspartic acid to glycine at position 494 of the Hex beta-subunit; moreover, RT-PCR showed aberrant exon 12 skipping, causing a frame-shift and premature stop codon, consequent to the disruption of an exonic splicing enhancer motif by the mutation. These data suggest that the c.1556 A>G transition would affect both HEXB mRNA processing and biochemical properties of the beta-subunit.
KW - Sandhoff's disease
KW - Sandhoff's disease
UR - http://hdl.handle.net/10807/129688
U2 - 10.1016/j.ymgme.2006.12.004
DO - 10.1016/j.ymgme.2006.12.004
M3 - Article
SN - 1096-7192
SP - 111
EP - 114
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
ER -