A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.

Misbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M Sain, Mohammad Zubair Alam, Raja Hussain Ali

Neurogenetics 2023 Jan

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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. © 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Citation

Misbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M Sain, Mohammad Zubair Alam, Raja Hussain Ali. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia. Neurogenetics. 2023 Jan;24(1):55-60