A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
Abstract
We report here on an 8-year-old girl and her mother, both displaying similar facial dysmorphism, speech delay, and mild to moderate intellectual disability. Array-CGH studies revealed the same interstitial 3q26.32 microdeletion encompassing a single coding gene, TBL1XR1, in both patients. The TBL1XR1 protein, which has four WD40 repeats, has been shown to bind the nuclear corepressor (NCOR) and histone deacetylase-3 complexes (HDAC3). TBL1XR1 mutations have recently been implicated in autism spectrum disorders, but our patients displayed no autistic behavior. Our findings suggest that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior.
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Mutations in TBLR1 and TBL1 have been associated with autism, intellectual disability, Pierpont syndrome, and West syndrome.
“Already, mutations in other components of the complex, TBLR1 and TBL1, have been associated with autism, intellectual disability, Pierpont syndrome, a disorder characterized by developmental delay and abnormal fat distribution in the distal limbs, and West syndrome, a disorder with RTT-like features [216–219].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [217]
Cites
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · cited 2× · see citing works
“The authors identified a de novo TBL1XR1mutation (p.Leu282Pro) in a patient with ASD and severe ID (performance IQ 47), by the exome screening of 209 parent-child trios displaying sporadic autism[O’Roak et al., 2012b].”
BackgroundYoon, H., Chan, D. W., Huang, Z., Li, J., Fondell, J. D., Qin, J., & Wong, J. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg120 · Cited by 444 · see citing works
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Rett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
Dysfunction of a SET3-like complex underlies a family of related neurological disorders
Paton, K. M., Alexander-Howden, B., Hare, J. I., Guy, J., Chhatbar, K., Yudina, M., Morris, S. T., Walls, R., Mathieson, T., Spanos, C., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-73227-5
- Authors
- Pons, L., Cordier, M. P., Labalme, A., Till, M., Louvrier, C., Schluth‐Bolard, C., Lesca, G., Edery, P., & Sanlaville, D.
- Affiliations
- Hospices Civils de Lyon (FR)
- Lyon 1 Université (FR)
- Department of Genetics Lyon University Hospital Lyons France
- Corresponding author
- Sanlaville, Damien
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2014-11-25
- Volume
- 167
- Issue
- 1
- Pages
- 164-168
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1996349314
- Cited by
- 44
- References
- 2
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 5 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 6 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 6 · 2015: 2
- FWCI
- 2.84
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Hospices Civils de Lyon
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- TBL1XR1, intellectual disability, facial dysmorphism, haploinsufficiency, speech delay, autism spectrum disorder, WD40 repeats, nuclear corepressor, HDAC3, genotype-phenotype correlation
- MeSH terms
- Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 3, Female, Humans, Infant, Infant, Newborn, Intellectual Disability, Nuclear Proteins, Pregnancy, Repressor Proteins, Syndrome, Receptors, Cytoplasmic and Nuclear, Facies, Comparative Genomic Hybridization
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