Table 1.

Molecular Genetic Testing Used in Familial Paroxysmal Nonkinesigenic Dyskinesia

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PNKD Sequence analysis 3~15 families 4
Gene-targeted deletion/duplication analysis 5Unknown, none reported 6
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

The most common PNKD pathogenic variants reported to date are p.Ala7Val and p.Ala9Val (see Molecular Genetics) [Rainier et al 2004, Stefanova et al 2006, Bruno et al 2007, Pons et al 2012, Yeh et al 2012].

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

No multiexon or whole-gene deletions or duplications have been reported in families with PNKD (see Genetically Related Disorders).

From: Familial Paroxysmal Nonkinesigenic Dyskinesia

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