A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature
Journal of Pediatric Neurology, cilt.20, sa.6, ss.403-406, 2021 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 20 Sayı: 6
- Basım Tarihi: 2021
- Doi Numarası: 10.1055/s-0041-1740368
- Dergi Adı: Journal of Pediatric Neurology
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, CAB Abstracts, CINAHL, EMBASE
- Sayfa Sayıları: ss.403-406
- Anahtar Kelimeler: ANO3, child, dystonia-24, tremor
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.