Jiménez de Domingo, AnaLópez Martín, SaraAlbert, JacoboJiménez de la Peña, MarTirado, PilarFernández Mayoralas, Daniel MartínFernández Perrone, Ana LauraCalleja Pérez, BeatrizMartínez García, MónicaÁlvarez de Andrés, SaraFernández Jaén, Alberto2022-01-192022-01-192020Jiménez de Domingo, A., López-Martín, S., Albert, J., Jiménez de la Peña, M., Tirado, P., Fernández-Mayoralas, D. M., Fernández-Perrone, A. L., Calleja-Pérez, B., Martínez-García, M., Álvarez, S., & Fernández-Jaén, A. (2020). ANO3 and early-onset dyskinetic encephalopathy. European Journal of Medical Genetics, 63(12). https://doi.org/10.1016/J.EJMG.2020.1040851769-72121878-0849http://hdl.handle.net/11268/10584Mutations 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.engDesempeño psicomotorjournal article10.1016/J.EJMG.2020.104085restricted accessGenética humanaDesarrollo del niñoMutación