Ruled Out: Lots of Bad Gene Mutations

The last set of results from Duke University are in. Bertrand has now tested normal for the following genes:

• SETX - mutations cause ataxia with oculomotor apraxia among others
• DGUOK -mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form
• APTX - mutations cause ataxia with oculomotor apraxia among others
  
• POLG1 -mutations cause alpers syndrome among others
  
• MPV17 - mutations cause Mitochondrial DNA-depletion syndrome, hepatocerebral form

This is fantastic, if confounding, news! We just have a few more lysosomal storage and mitochondrial disease tests pending before Bertrand is officially über rare.