ADCY5-related dyskinesia: a case report

Abstract

Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

Keywords: ADCY5; Chorea; Dyskinesia; Dystonia; Whole exome sequencing.

Fig. 1

Whole-exome sequencing in the proband. The figure shows the alignment of the reads around the pathogenic variant (c.1252C>T:p.Arg418Trp) of the BAM file visualized using the GenomeBrowse software (Golden Helix, Inc. USA) (https://www.goldenhelix.com/products/GenomeBrowse/). The top panel illustrates the coverage of the reads, and the middle panel shows the actual mapping of the reads with blue indicating forward reads and green indicating reverse reads. The bottle panel shows the reference genome (CRCH37) and information from the gnomAD and ClinVar databases

Fig. 2

Sanger sequencing in proband and proband’s parents. Sanger sequencing of variant c.1252C>T shows a peak of both T and C allele in the proband, whereas her parents have homozygous wildtype allele C