Abstract
Cerebellar ataxias (CAs) comprise a rare group of neurological disorders characterized by extensive phenotypic and genetic heterogeneity. In the last several years, our understanding of the CA etiology has increased significantly and resulted in the discoveries of numerous ataxia-associated genes. Herein, we describe a single affected individual from a consanguineous family segregating a recessive neurodevelopmental disorder. The proband showed features such as global developmental delay, cerebellar atrophy, hypotonia, speech issues, dystonia, and profound hearing impairment. Whole-exome sequencing and Sanger sequencing revealed a biallelic nonsense variant (c.496A > T; p.Lys166*) in the exon 5 of the PRDX3 gene that segregated perfectly within the family. This is the third report that associates the PRDX3 gene variant with cerebellar ataxia. In addition, associated hearing impairment further delineates the PRDX3 associated gene phenotypes.
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We are grateful to the patient and his family for their genuine support.
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Rafeeq MM and Umair M drafted the manuscript and performed and analyzed the data. Bilal M and Habib AH performed protein modeling. Waqas A, Sain ZM, and Alam MZ performed clinical analysis. Ali RH and Umair M performed data analysis and reviewed the final manuscript.
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The study was approved by the Institutional Research Committee. Written informed consent was obtained from the patients.
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Rafeeq, M.M., Umair, M., Bilal, M. et al. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia. Neurogenetics 24, 55–60 (2023). https://doi.org/10.1007/s10048-022-00701-9
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DOI: https://doi.org/10.1007/s10048-022-00701-9