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

Muhammet Furkan Korkmaz; Arzu Ekici; Orhan Görükmez

doi:10.1055/s-0041-1740368

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

¹Department of Pediatrics, University of Health Sciences, Bursa City Training and Research Hospital, Bursa, Turkey

,

Arzu Ekici

²Department of Pediatric Neurology, University of Health Sciences, Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey

,

Orhan Görükmez

³Department of Medical Genetics, University of Health Sciences, Yüksek Ihtisas Training and Research Hospital, Bursa, Turkey

› Institutsangaben

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

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Referenzen

References
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