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

M Gomez-Lira; M Mottes; C Perusi; P F Pignatti; N Rizzuto; R Gatti; A Salviati

doi:10.1006/mcpr.2000.0342

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

Mol Cell Probes. 2001 Apr;15(2):75-9. doi: 10.1006/mcpr.2000.0342.

Authors

M Gomez-Lira¹, M Mottes, C Perusi, P F Pignatti, N Rizzuto, R Gatti, A Salviati

Affiliation

¹ Dipartimento Materno Infantile e di Biologia e Genetica, Sezione Biologia e Genetica, Università di Verona, Strada Le Grazie 8, Verona, 37134, Italia. macarena@borgoroma.univr.it

PMID: 11292324
DOI: 10.1006/mcpr.2000.0342

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 DeltaAGTT). 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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Codon, Terminator*
Frameshift Mutation*
Gangliosidoses, GM2 / genetics
Gangliosidoses, GM2 / metabolism
Hexosaminidase B
Humans
Infant
Male
Polymerase Chain Reaction
RNA, Messenger / analysis
Sandhoff Disease / genetics*
Sequence Deletion*
beta-N-Acetylhexosaminidases / genetics*

Substances

Codon, Terminator
RNA, Messenger
Hexosaminidase B
beta-N-Acetylhexosaminidases