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.

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