Perrault syndrome is a rare disorder characterized by ovarian dysgenesis, bilateral sensorineural hearing loss and associated with mutations in six mitochondrial proteins. Additional neurological features were also described. Herein, we report on a 27-year-old woman with Perrault syndrome (PS), moderate ataxia and axonal sensory-motor peripheral neuropathy in whom we identified compound heterozygous mutations in the TWNK gene (p.Val507Ile and the novel p.Phe248Ser variant). Fewer than 30 patients with PS have been reported worldwide. Neurological involvement is more frequently associated with mutations in TWNK and indicates possible genotype-phenotype correlations. TWNK mutations should be searched in patients with sensory ataxia, early onset bilateral sensorineural hearing loss, and ovarian dysfunction in women.

中文翻译：

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Perrault综合征中Twinkle的一种新突变：一种不罕见的诊断？

Perrault 综合征是一种罕见的疾病，其特征是卵巢发育不全、双侧感音神经性听力损失，并与六种线粒体蛋白的突变有关。还描述了其他神经学特征。在此，我们报告了一名患有 Perrault 综合征 (PS)、中度共济失调和轴索感觉运动周围神经病的 27 岁女性，我们在其中发现了 TWNK 基因中的复合杂合突变（p.Val507Ile 和新型 p.Phe248Ser 变异） ）。全世界报告的 PS 患者不到 30 名。神经系统受累更常与 TWNK 突变相关，表明可能存在基因型-表型相关性。应在感觉性共济失调、早发性双侧感音神经性听力损失和女性卵巢功能障碍的患者中搜索 TWNK 突变。