- Whole exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1 in a 61-year-old with generalized dystonia.
- TBL1XR1 is classically linked to Pierpont syndrome and autism spectrum disorder; this report suggests generalized dystonia as an additional phenotype.
- Case underscores the value of retrospective genetic phenotyping and next generation sequencing in adults with long standing neurodevelopmental diagnoses.
Tremor Other Hyperkinet Mov (N Y). 2026 Sep 3;16:51. doi: 10.5334/tohm.1242. eCollection 2026.
ABSTRACT
BACKGROUND: A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes.
CASE REPORT: We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years. Whole-exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1.
DISCUSSION: TBL1XR1 variants are classically associated with Pierpont syndrome and autism spectrum disorder. Although movement disorders have been reported, this case suggests generalized dystonia as a possible additional manifestation. It highlights the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.
PMID:42699641 | PMC:PMC13544040 | DOI:10.5334/tohm.1242
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