A novel ANO3 variant in two siblings with different phenotypes

Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years. Here we present two sibling...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2023-06, Vol.111, p.105413-105413, Article 105413
Main Authors: Esposito, Marcello, Trinchillo, Assunta, Piceci-Sparascio, Francesca, D'Asdia, Maria Cecilia, Consoli, Federica, De Luca, Alessandro
Format: Article
Language:English
Subjects:
ANO3
Anoctamins - genetics
Dystonia - genetics
Dystonic Disorders - genetics
Dyt24
Humans
Inherited dystonia
Mutation - genetics
Novel mutation
Phenotype
Siblings
Tremor - genetics
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Summary:Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years. Here we present two siblings affected by dystonia 24 associated to a novel missense mutation of the ANO3 gene. Description of their phenotype, with regard to motor and non-motor features, may improve the knowledge on DYT 24. Consistent with previous reports, our patients presented with cranio-cervical involvement, and they also exhibited different severity and phenotypes. However non-motor symptoms were present too. Dystonia 24 spectrum is continuously expanding. This case suggests that the ANO3 missense mutation should be sought in all cases of dystonia and isolated tremor and that non-motor symptoms are an integral part of dystonic syndromes. It also shows that clinical and treatment features may vary from patient to patient, even if they may present the same mutation. •We report on a de novo mutation of the ANO3 gene, causing Dystonia 24 (DYT24) in two siblings.•DYT24 may manifest with a wide variety of motor and non-motor symptoms.•Our siblings exhibited different severity and phenotypes.•Therapeutical options need to be personalized in such dystonia.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2023.105413