Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect

Mario Sabatelli, Enzo Ricci, Gabriella Silvestri, Michele Cosimo Santoro, Anna Modoni, Francesca Madia, Pietro Attilio Tonali, F Piemonte, G Tozzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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 originaleEnglish
pagine (da-a)111-114
Numero di pagine4
RivistaMolecular Genetics and Metabolism
Stato di pubblicazionePubblicato - 2007

Keywords

  • atrophy
  • ganglioside
  • motor neuron

Fingerprint

Entra nei temi di ricerca di 'Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect'. Insieme formano una fingerprint unica.

Cita questo