ANO3 and early-onset dyskinetic encephalopathy

• Published in: European journal of medical genetics Vol. 63; no. 12; p. 104085
• Main Authors: Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01-12-2020
• Subjects: ANO3 gene; Craniocervical dystonia; Psychomotor regression; Craniocervical dystonia; Psychomotor regression; ANO3 gene
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.104085

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.