We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 ΔAGTT). The result is a frameshift mutation that leads to a stop codon in exon 5. This mutation is associated with a dramatic decrease of HEXB mRNA levels. © 2001 Academic Press.

A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease

Gomez-Lira M.;Mottes M.;Perusi C.;Pignatti P. F.;Rizzuto N.;Salviati A.
2001

Abstract

We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 ΔAGTT). The result is a frameshift mutation that leads to a stop codon in exon 5. This mutation is associated with a dramatic decrease of HEXB mRNA levels. © 2001 Academic Press.
Infantile Sandhoff disease; mutation; stop codon
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/301778
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