Curation PRTS ARX

Gene ARX

Disease PRTS

Inheritance XR

Score

12 + 0 = 12 / 18

Genetic + experimental = total

Classification

Definitive

Refuted

Moderate

Definitive

Last Updated 08/18/2025

Pubs Reviewed 2

Publication Span 4.75 years

Publication Interval 4.75 years

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.

All criTRia Curations Locus Page

Genetic evidence

Total: 12

Per page

Category	Type	Citation	Score	Details
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.

Experimental evidence

Total: 0

No experimental evidence details available.

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.