Table 1 Mutations at PNKD and diseases
From: The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family
Mutation | Exon location | Isoforms impacted | Phenotype | Reference |
|---|---|---|---|---|
A7V (heta) | 1 | Long and short | Paroxysmal nonkinesigenic dyskinesia | |
A9V (het) | 1 | Long and short | Paroxysmal nonkinesigenic dyskinesia | |
A33P (het) | 2 | Long and short | Paroxysmal nonkinesigenic dyskinesia and cerebellar ataxia | |
G89R | 5 | Long and medium | Mostly gastro-intestinal dysmotility but a couple of patients exhibiting movement disorders (ataxia,dyskinesia) | |
P341Rfs*2 (het) | 12 | Long and medium | Familial hemiplegic migraine |
