A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
Abstract
Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features.
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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 [219]
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 · 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
Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2015.09.011 · Cited by 84 · see citing works
Self-citationDysfunction 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
- Saitsu, H., Tohyama, J., Walsh, T., Kato, M., Kobayashi, Y., Lee, M., Tsurusaki, Y., Miyake, N., Goto, Y.-I., Nishino, I., Ohtake, A., King, M.-C., & Matsumoto, N.
- Affiliations
- Yokohama City University (JP)
- Nishi Niigata Chuo National Hospital (JP)
- University of Washington (US)
- Yamagata University (JP)
- National Center of Neurology and Psychiatry (JP)
- Saitama Medical University (JP)
- Corresponding author
- Saitsu, Hirotomo
- Matsumoto, Naomichi
- ORCID
- Venue
- Journal of Human Genetics
- Published
- 2014-08-07
- Volume
- 59
- Issue
- 10
- Pages
- 581-583
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2055397543
- Cited by
- 57
- References
- 1
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 6 · 2023: 3 · 2022: 2 · 2021: 5 · 2020: 5 · 2019: 6 · 2018: 5 · 2017: 6 · 2016: 8 · 2015: 2
- FWCI
- 3.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Takeda Science Foundation (11105137)
- Japan Society for the Promotion of Science (25293235, 25293085, 13313587)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- West syndrome, TBL1XR1, de novo mutations, autism spectrum disorder, hypsarrhythmia, spasms, stereotypic hand movements
- MeSH terms
- Autistic Disorder, DNA Mutational Analysis, Exons, Female, Humans, Infant, Nuclear Proteins, Repressor Proteins, Spasms, Infantile, Rett Syndrome, Receptors, Cytoplasmic and Nuclear, Mutation, Missense
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