Abstract
TDP2 gene encodes tyrosyl DNA phosphodiesterase 2, an enzyme required for effective repair of the DNA double-strand breaks (DSBs). Spinocerebellar ataxia autosomal recessive 23 (SCAR23) is a rare disease caused by the pathogenic mutation of TDP2 gene and characterized by intellectual disability, progressive ataxia and refractory epilepsy. Thus far, merely nine patients harboring five different variants (c.425 + 1G > A; c.413_414delinsAA, p. Ser138*; c.400C > T, p. Arg134*; c.636 + 3_ 636 + 6 del; c.4G > T, p. Glu2*) in TDP2 gene have been reported. Here, we describe the tenth patient with a novel variant (c.650del, p. Gly217GlufsTer7) and new phenotype (pituitary tumor and hyperhidrosis).
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References
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Funding
This study was supported financially by Shenzhen San Ming Project (No. SZSM201911003).
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All authors contributed to the study conception and design. YQZ, YFS, and KHH were involved in data acquisition. YQZ and ZWS prepared the figures. YQZ, SDC, and LMZ contributed to the data analysis and drafting of the text.
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Zheng, Y., She, Y., Su, Z. et al. A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report. Neurol Sci (2024). https://doi.org/10.1007/s10072-024-07397-9
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DOI: https://doi.org/10.1007/s10072-024-07397-9