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Journal of Pediatric Neurology 2022; 20(06): 403-406
DOI: 10.1055/s-0041-1740368
Case Report

A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Muhammet Furkan Korkmaz 
1   Department of Pediatrics, University of Health Sciences, Bursa City Training and Research Hospital, Bursa, Turkey
,
Arzu Ekici 
2   Department of Pediatric Neurology, University of Health Sciences, Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey
,
Orhan Görükmez 
3   Department of Medical Genetics, University of Health Sciences, Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey
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Abstract

Mutations in ANO3 have recently been identified as an autosomal dominant cause of dystonia (dystonia-24). Since then, the phenotypic spectrum has also been extended in children. Here, we reported a case of a 10-year-old Turkish girl child patient with a novel variant (NM_001313726: c.221dupA, p.Tyr74*), who exhibited tremor with mild dystonia. This report expands the phenotype caused by ANO3 variants and reveals an essential clinical aspect for patients and medical staff.

Keywords

ANO3 - child - dystonia-24 - tremor


Publication History

Received: 13 July 2021

Accepted: 25 September 2021

Article published online:
20 December 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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