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Case Reports
. 2023 Jul;24(3):215-218.
doi: 10.1007/s10048-023-00720-0. Epub 2023 May 24.

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30

Mariana Santos  1 , João Massano  2 , Alexandra Manuel Lopes  3 , Ana Filipa Brandão  3 , João Parente Freixo  3 , Jorge Oliveira  3
Affiliations
Case Reports

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30

Mariana Santos et al. Neurogenetics. 2023 Jul.

Abstract

Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures and/or repetitive movements. In this report, we identified a novel heterozygous splice-site variant in VPS16 (NM_022575.4:c.240+3G>C) in a patient with cervical and upper limb dystonia without other neurological or extra-neurological features. Analysis of patient's blood mRNA showed disruption of exon 3/intron 3 donor splice-site, leading to exon 3 skipping, which predictably results in a frameshift [p.(Ala48Valfs*14)]. Despite the scarcity of splice-affecting variants described in VPS16-related dystonia, our report contributes with the first fully characterized variant at the mRNA level.

Keywords: VPS16; dystonia; splicing; variant.

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