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.
Santoro, M. C., Modoni, A., Sabatelli, M., Madia, F., Piemonte, F., Tozzi, G., Ricci, E., Tonali, P. A., Silvestri, G., Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect, <<MOLECULAR GENETICS AND METABOLISM>>, 2007; (Maggio): 111-114 [http://hdl.handle.net/10807/3467]
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect
Santoro, Michele Cosimo;Modoni, Anna;Sabatelli, Mario;Madia, Francesca;Ricci, Enzo;Tonali, Pietro Attilio;Silvestri, Gabriella
2007
Abstract
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.
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