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.

小脑性共济失调 (CAs) 包括一组罕见的神经系统疾病，其特征在于广泛的表型和遗传异质性。在过去的几年中，我们对 CA 病因学的理解显着增加，并导致许多共济失调相关基因的发现。在此，我们描述了一个来自近亲家庭的单个受影响的个体，该个体患有隐性神经发育障碍。先证者表现出整体发育迟缓、小脑萎缩、肌张力减退、言语问题、肌张力障碍和重度听力障碍等特征。全外显子组测序和 Sanger 测序揭示了PRDX3基因外显子 5 中的双等位基因无义变异 (c.496A > T; p.Lys166*)，该变异在家族内完美分离。这是第三份报告PRDX3基因变异伴小脑性共济失调。此外，相关的听力障碍进一步描述了 PRDX3 相关基因的表型。