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Article

De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.

American journal of medical genetics. Part A - 1 Sept 2014

Tabet Anne-Claude, Leroy Camille, Dupont Céline, Serrano Emilie, Hernandez Karen, Gallard Jennifer, Pouvreau Nathalie, Gadisseux Jean-François, Benzacken Brigitte, Verloes Alain

Abstract excerpt

We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1. The girl shows non-specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in TBL1XR1 have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that...

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PMID: 24891185
DOI: 10.1002/ajmg.a.36619

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.PMID 24891185Read ↗

Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.Semantic proximity Read ↗

Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.Semantic proximity Read ↗

Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.Semantic proximity Read ↗

A heritable microduplication encompassing TBL1XR1 causes a genomic sister‐disorder for the 3q26.32 microdeletion syndromeSemantic proximity Read ↗

A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.Semantic proximity Read ↗

The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.Semantic proximity Read ↗

TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.Semantic proximity Read ↗

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.Semantic proximity Read ↗

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardationSemantic proximity Read ↗

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.Semantic proximity Read ↗

A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.Semantic proximity Read ↗

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.Semantic proximity Read ↗

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