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.
Lingua originale | English |
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pagine (da-a) | 111-114 |
Numero di pagine | 4 |
Rivista | Molecular Genetics and Metabolism |
Stato di pubblicazione | Pubblicato - 2007 |
Keywords
- atrophy
- ganglioside
- motor neuron