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Youngest presenting patient with dystonia 24 and review of the literature.

ABSTRACT: Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the ANO3 gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia.

SUBMITTER: Nelin S

PROVIDER: S-EPMC6230669 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

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Youngest presenting patient with dystonia 24 and review of the literature.

Nelin Sarah S Hussey Richard R Faux Brian M BM Rohena Luis L

Clinical case reports 20180915 11

Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the <i>ANO3</i> gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia. ...[more]

PMID: 30455893

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Orbital T-cell lymphoma in youngest recorded patient - early diagnosis, management, and successful outcome: a case report and review of the literature.

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Mining novel candidate imprinted genes using genome-wide methylation screening and literature review

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Project description: Not available

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Project description:We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c.3086T>G, p. M1029R in ADCY5 most closely matched the observed phenotype. This report illustrates the utility of whole-exome sequencing in cases of undiagnosed movement disorders with clear autosomal dominant inheritance. Moreover, ADCY5 mutations should be considered in cases with apparent myoclonus-dystonia, particularly where SCGE mutations have been excluded. ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.

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