Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) is a rare mitochondrial disorder associated with mutations in the POLG gene, which encodes the DNA polymerase gamma catalytic subunit. A few POLG-related SANDO cases have been reported, but the genotype–phenotype correlation remains unclear. Here, we report a patient with SANDO carrying two novel missense variants (c.2543G>C, p.G848A and c.452 T>C, p.L151P) in POLG. We also reviewed previously reported cases to systematically evaluate the clinical and genetic features of POLG-related SANDO. A total of 35 distinct variants in the coding region of POLG were identified in 63 patients with SANDO. The most frequent variant was the p.A467T variant, followed by the p.W748S variant. The clinical spectrum of SANDO is heterogeneous. No clear correlation has been observed between the mutation types and clinical phenotypes. Our findings expand the mutational spectrum of POLG and contribute to clinical management and genetic counseling for POLG-related SANDO.

感觉共济失调性神经病、构音障碍和眼麻痹 (SANDO) 是一种罕见的线粒体疾病，与POLG基因突变相关，该基因编码 DNA 聚合酶 γ 催化亚基。已经报道了一些与 POLG 相关的 SANDO 病例，但基因型-表型相关性仍不清楚。在这里，我们报告了一名 SANDO 患者在 POLG 中携带两种新的错义变体（c.2543G>C、p.G848A 和 c.452 T>C、p.L151P）。我们还回顾了先前报道的病例，以系统地评估 POLG 相关 SANDO 的临床和遗传特征。POLG编码区共有35个不同的变体在 63 名 SANDO 患者中发现。最常见的变体是 p.A467T 变体，其次是 p.W748S 变体。SANDO 的临床谱是异质的。在突变类型和临床表型之间没有观察到明确的相关性。我们的研究结果扩大了POLG的突变谱，并有助于 POLG 相关 SANDO 的临床管理和遗传咨询。