ArticleOrphanet journal of rare diseases2024
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Review
- Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.Human genomics · 2025Article
- Examination of DNA Methylation Patterns in Children Born Premature with Prenatal Tobacco Smoke Exposure.Toxics · 2025Article
- Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.BMC medical genomics · 2025Article
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundTBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.
methodsWe developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder. The survey consisted of 14 subsections focused upon the developmental trajectories of cognitive, behavioral, motor, and other neurological abnormalities. Data were collected and managed using REDCap electronic data capture tools.
resultsCaregivers of 41 patients with a TBL1XR1-related disorder completed the cross-sectional survey. All reported variants affecting a single amino acid, including missense mutations and in-frame deletions, were found in the WD40 repeat regions of Tbl1xr1. These are domains considered important for protein-protein interactions that may plausibly underlie disease pathology. The majority of patients were diagnosed with a neurologic condition before they received their genetic diagnosis. Language appeared most significantly affected with only a minority of the cohort achieving more advanced milestones in this domain.
conclusionTBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood.
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