Last update: 05/06/2006

Background to disease

OMIM #128100 (DYT1 gene OMIM *605204)

Autosomal dominant torsion dystonia (DYT1) can be caused by mutations in the DYT1 gene encoding an ATP-binding protein called torsin A. Onset is early; symptoms begin in adolescence with involuntary twisting of the neck, limbs or torso.

Penetrance is approximately 30 – 40%. The major mutation is a 3 bp in-frame deletion (GAG) in exon 5 of DYT1 resulting in the loss of a single glutamic acid.

The disease is common in the Ashkenazi Jewish population with a disease gene frequency of 1 in 15,000.

Laboratory Analysis

Contact scientist: Rachel Robinson

	Test	Target reporting time (working days)
1.	Deletion sizing PCR	40