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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Acknowledgments
The authors thank the patients and family who supported this work. The authors are grateful to Margherita Verardo for technical assistance.
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Table S1
Clinical features of the two affected siblings compared to D132A-related PCH1 patients (DOC 40 kb)
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Zanni, G., Scotton, C., Passarelli, C. et al. Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3 . Neurogenetics 14, 247–250 (2013). https://doi.org/10.1007/s10048-013-0371-z
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DOI: https://doi.org/10.1007/s10048-013-0371-z