Mutations of Anoctamine 3 gene (ANO3) are a rare cause of dystonia, which have first
been described in families with tremulous craniocervical dystonia [
[1]
]. Since then, the phenotypic spectrum has been extended [
[2]
]. Notably, isolated tremor at the beginning of the disease has been observed, and
could be misdiagnosed as essential tremor. More recently, childhood onset generalized
dystonia has been reported [
[3]
]. Here, we present a family carrying ANO3 mutation and exhibiting a myoclonic dystonia
and tremor phenotype.Keywords
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References
- Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis.Am. J. Hum. Genet. Dec 7, 2012; 91: 1041-1050
- The phenotypic spectrum of DYT24 due to ANO3 mutations.Mov. Disord. Jun, 2014; 29: 928-934
- Role of ANO3 mutations in dystonia: a large-scale mutational screening study.Parkinsonism Relat. Disord. Jan 2, 2019; (S1353-8020(18)30564-9)
- Assessment of a targeted gene panel for identification of genes associated with movement disorders.JAMA Neurol. Oct 1, 2018; 75: 1234-1245
- CADD: predicting the deleteriousness of variants throughout the human genome.Nucleic Acids Res. Jan 8, 2019; 47: D886-D894
- Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Mov. Disord. 2017; 32: 549-559
Article info
Publication history
Published online: June 13, 2019
Received in revised form:
June 6,
2019
Received:
May 16,
2019
Identification
Copyright
© 2019 Elsevier B.V. All rights reserved.
