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.
摘要：
小脑共济失调（CA）是一组罕见的神经系统疾病，其特征是广泛的表型和遗传异质性。在过去的几年里，我们对CA病因学的认识显著增加,并导致大量共济失调相关基因的发现.在这里，我们描述了一个来自分离隐性神经发育障碍的近亲家庭的单个受影响个体。先证者表现出全球发育迟缓等特征，小脑萎缩,低张力,演讲问题,肌张力障碍,和严重的听力障碍。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体(c.496A>T;p.Lys166*),其在家族中完全分离。这是第三篇将PRDX3基因变异体与小脑共济失调相关联的报告。此外,相关的听力损害进一步描述了PRDX3相关基因的表型.
