Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3
Abstract
Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. This study confirms the involvement of RNA processing proteins in disorders with motor neuron and cerebellar degeneration overlapping with spinocerebellar ataxia 36 and rare forms of hereditary spastic paraplegia with cerebellar features.
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Patients with homozygous EXOSC3 p.D132A can live up to the second decade of life.
“patients with homozygous EXOSC3 p.Asp132Ala (p.D132A) variant can live up to the second decade of life37.”
From EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery (2026) · cites this paper as [37]
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Morton, D. J., Jalloh, B., Kim, L., Kremsky, I., Nair, R. J., Nguyen, K. B., Rounds, J. C., Sterrett, M. C., Brown, B., Le, T., et al. (2020) · PLOS Genetics · doi:10.1371/journal.pgen.1008901 · Cited by 24 · see citing works
Le Duc, D., Horn, S., Jamra, R. A., Schaper, J., Wieczorek, D., & Redler, S. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.04.006 · Cited by 16 · see citing works
The RNA exosome maintains cellular RNA homeostasis by controlling transcript abundance in the brain
Higginson, L. A., Wang, X., He, K., Torstrick, M., Kim, M., Wijeratne, H. R. S., Runnebohm, A. M., Benayoun, B. A., MacLean, A., Chanfreau, G. F., et al. (2026) · Cell Reports · doi:10.1016/j.celrep.2025.116729 · Cited by 7 · see citing works
EXOSC3 G191 Variants Trigger System-Wide Recalibration of RNA Processing Machinery
Wijeratne, H. R. S., Runnebohm, A. M., Barron, M. P., Hampton, A. J., Li, R., Peck Justice, S. A., Lenceski, S. H., Rooney, J. D., Smith-Kinnaman, W. R., Chang, G. S., et al. (2026) · doi:10.64898/2026.01.26.701775 · Cited by 1 · see citing works
- Authors
- Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E., & Wei, W.
- Affiliations
- University of Ferrara (IT)
- BGI Group (China) (CN)
- Bambino Gesù Children's Hospital (IT)
- Corresponding author
- Bertini, E.
- ORCID
- Venue
- neurogenetics
- Published
- 2013-08-24
- Volume
- 14
- Issue
- 3-4
- Pages
- 247-250
- ISSN
- 1364-6745 (ISSN-L)
- 1364-6753
- OpenAlex
- W2036234919
- Cited by
- 41
- References
- 0
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 5 · 2020: 5 · 2019: 2 · 2018: 4 · 2017: 6 · 2016: 2 · 2015: 3 · 2014: 6 · 2013: 1
- FWCI
- 1.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Neurogenetics (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Ferrara (University of Ferrara) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- EXOSC3, intellectual disability, cerebellar atrophy, missense mutations, hereditary spastic paraplegia, autosomal recessive inheritance, family studies
- MeSH terms
- Adolescent, Atrophy, Bangladesh, Cerebellum, DNA Mutational Analysis, Female, Humans, Male, Intellectual Disability, Muscle Spasticity, Spastic Paraplegia, Hereditary, RNA-Binding Proteins, Mutation, Missense, Spinocerebellar Ataxias, Young Adult, Exome, Exosome Multienzyme Ribonuclease Complex
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