PRTS_ARX
- Gene
- ARX
- Disease
- PRTS
- Inheritance
- XR
- Classification
- Definitive
- Total Score
- 12
- Publications Reviewed
- 2
- Publication Span
- 4.75 years
- Last Updated
- 08/18/2025
- Curator(s)
- Laurel Hiatt, Macayla Weiner
Description
Partington syndrome (PRTS) is an X-linked ARX-related neurodevelopmental disorder associated with coding polyalanine tract expansions, particularly the recurrent pA2 24-bp duplication c.441_464dup (also reported historically as c.429_452dup) that expands the second polyalanine tract from 12 to 20 alanines. Reported phenotypes include intellectual disability with dystonic hand movements/dysarthria, with overlap across the ARX polyalanine expansion spectrum.
Genetic evidence
Total: 12
| Singular Evidence | Probands | PMID:20506206 | 6 | Review of published ARX polyalanine expansion cases reported the recurrent pA2 24-bp duplication (c.429_452dup; now c.441_464dup) in 38 families, including 6 families with Partington syndrome. |
| Collective Evidence | Allele | PMID:20506206 | 1 | Locus-specific pA2 expansion data support a length/structure effect: the 12-to-20 alanine pA2 expansion is associated with PRTS in a subset of families, while longer uninterrupted pA2 expansion was associated with more severe infantile spasms and a glycine-interrupted expansion with milder PRTS. |
| Statistics | Case-control data | PMID:26029707 | 6 | Cohort-level testing of 138 individuals with intellectual disability identified pathogenic pA2 c.441_464dup in 8 patients from 6 families; retrospective evaluation of affected males with dup24 identified hand dystonia consistent with Partington-like syndrome. |
3 rows
Experimental evidence
Total: 0
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.