Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype characteristics of this disorder. Here we describe a 3 years-old girl with distal myoclonic dystonia. Whole exome sequencing in trio revealed a de novo missense ANO3 variant not previously described in international databases. A global psychomotor regression was observed once dystonia was present. Brain MRI changes paralleled these findings: whereas MRI at the age of 18 months was normal, mild brain and cerebellar atrophy was observed 18 months later. These results suggest that missense mutations in ANO3 may underlie complex disorders particularly characterized by early psychomotor regression and dystonia.

ANO3基因的突变与常染色体显性遗传性颅颈肌张力障碍有关。然而，关于这种疾病的基因型-表型特征知之甚少。在这里，我们描述了一个3岁女孩患有远端肌阵挛性肌张力障碍。三重奏中的完整外显子组测序揭示了国际数据库中以前没有描述的从头错义ANO3变体。一旦出现肌张力障碍，就会观察到整体性的精神运动消退。脑部MRI的变化与这些发现相符：18个月大时MRI正常，而18个月后发现轻度脑部和小脑萎缩。这些结果表明，ANO3的错义突变可能是复杂疾病的基础，特别是早期精神运动功能退化和肌张力障碍。