Sun Rong, Tang Xiang, Cao Xueqin, Shao Xinyu, Sun Hong
Department of Endocrinology and Metabolism, Dushu Lake Hospital Affiliated to Soochow University, Medical Center of Soochow University, Suzhou, Jiangsu, China.
Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Front Genet. 2023 Mar 8;14:1129988. doi: 10.3389/fgene.2023.1129988. eCollection 2023.
mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus. Until now, there has never been a report of patients with mutations of c.1232G>C worldwide. We report a case of a 30-year-old Chinese man with episodic dystaxia, speech disorder, and cognitive impairment; however, his father exclusively exhibited a speech disorder regardless of the same mutation. Whole-exome sequencing revealed a heterozygous c.1232G>C (p.G411A) variant of . This case presents an extended genotype and phenotype of SCA14, and emphasizes the importance of gene sequencing in patients with spinocerebellar ataxia.
突变与14型脊髓小脑共济失调（SCA14）的发病机制有关，SCA14是一种罕见的常染色体显性疾病，其特征为小脑变性、构音障碍和眼球震颤。到目前为止，全球尚无c.1232G>C突变患者的报道。我们报告一例30岁中国男性病例，其有发作性共济失调、言语障碍和认知障碍；然而，其父亲尽管有相同突变，但仅表现出言语障碍。全外显子测序揭示了一个杂合的c.1232G>C（p.G411A）变体。该病例展示了SCA14扩展的基因型和表型，并强调了基因测序在脊髓小脑共济失调患者中的重要性。
