De Novo Missense Mutation of <scp><i>VPS16</i></scp> in a Chinese Patient with Generalized Dystonia with Myoclonus

Gu, Xiaojing; Lin, Junyu; Hou, Yanbing; Zhang, Lingyu; Shang, Huifang

doi:10.1002/mdc3.13392

Cited by 4 publications

(8 citation statements)

References 7 publications

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“…In our series, dystonic tremor sometimes of a jerky appearance and myoclonus were observed over disease course in most patients as the most disabling feature, reminding of ANO3‐patients. In line with our observations, two patients carrying VPS16 mutations were previously reported to display myoclonus 9,10 . These peculiar phenomenologies are unlikely determined solely by the type of pathogenic variant in VPS16 , since isolated dystonic phenotypes were observed in some affected relatives of these patients.…”

Section: Discussionsupporting

confidence: 91%

“…In line with our observations, two patients carrying VPS16 mutations were previously reported to display myoclonus. 9,10 These peculiar phenomenologies are unlikely determined solely by the type of pathogenic variant in VPS16, since isolated dystonic phenotypes were observed in some affected relatives of these patients.…”

Section: Discussionmentioning

confidence: 94%

“…Initially, a homozygous mutation was found to co‐segregate with juvenile‐onset progressive generalized dystonia in a consanguineous Chinese family 2 . Subsequently, heterozygous VPS16 deleterious variants were identified in patients affected by autosomal dominant dystonia with incomplete penetrance 1,4–10 …”

Section: Patient Age At Onset Localization At Onset Other Localizatio...mentioning

confidence: 99%

“…2 Subsequently, heterozygous VPS16 deleterious variants were identified in patients affected by autosomal dominant dystonia with incomplete penetrance. 1,[4][5][6][7][8][9][10] Most VPS16 patients display early-onset isolated dystonia with prominent oromandibular, bulbar, cervical and upper limb involvement, followed by slowly progressive generalization, typically retaining the ability to walk in adulthood 1 (Table S1). We report six patients carrying heterozygous pathogenic VPS16 variants, five of which are novel.…”

mentioning

confidence: 99%

“… 2 Subsequently, heterozygous VPS16 deleterious variants were identified in patients affected by autosomal dominant dystonia with incomplete penetrance. 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 …”

mentioning

confidence: 99%

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Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Monfrini,

Avanzino,

Palermo

et al. 2023

Movement Disord Clin Pract

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BackgroundVPS16 pathogenic variants have been recently associated with inherited dystonia. Most patients affected by dominant VPS16‐related disease display early‐onset isolated dystonia with prominent oromandibular, bulbar, cervical, and upper limb involvement, followed by slowly progressive generalization.CasesWe describe six newly reported dystonic patients carrying VPS16 mutations displaying unusual phenotypic features in addition to dystonia, such as myoclonus, choreoathetosis, pharyngospasm and freezing of gait. Response to bilateral Globus Pallidus Internus Deep Brain Stimulation (GPi‐DBS) is reported in three of them, associated with significant improvement of dystonia but only minor effect on other hyperkinetic movements. Moreover, five novel pathogenic/likely pathogenic variants are described.ConclusionsThis case collection expands the genetic and clinical spectrum of VPS16‐related disease, prompting movement disorder specialists to suspect mutations of this gene not only in patients with isolated dystonia.This article is protected by copyright. All rights reserved.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 94%

Section: Patient Age At Onset Localization At Onset Other Localizatio...mentioning

confidence: 99%

mentioning

confidence: 99%

“… 2 Subsequently, heterozygous VPS16 deleterious variants were identified in patients affected by autosomal dominant dystonia with incomplete penetrance. 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 …”

mentioning

confidence: 99%

See 3 more Smart Citations

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Monfrini,

Avanzino,

Palermo

et al. 2023

Movement Disord Clin Pract

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Voice Tremor in VPS‐16 Gene Mutation: Expanding the Clinical Spectrum

Gomathy,

Das,

Parihar

et al. 2024

Movement Disord Clin Pract

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A Novel Pattern of Dystonia in DYT- VPS16

Desjardins,

Delorme,

Méneret

et al. 2024

Neurol Genet

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ObjectivesTo expand the phenotype and genotype of VPS16-related dystonia (DYT-VPS16). MethodsWe report 2 patients with previously unreported VPS16 truncating variants and highlight some distinctive phenomenological characteristics of DYT-VPS16. ResultsThe 2 patients, who were unrelated, presented with early-onset orofacial dystonia with prominent tongue involvement. Case 1, a 37-year-old woman, developed disabling orofacial dystonia, with tongue protrusion (lingual dystonia), orofacial gesticulations, and hyperkinetic dysarthria, responsible for an odd "foreign language" quality. Case 2, a 36-year-old woman, exhibited orofacial dystonia with prominent lingual involvement and orofacial gesticulations. In both patients, orofacial dystonia led to predominant speech impairment with no or discrete swallowing difficulties. DiscussionSubstantial tongue dystonia may be a distinctive feature of DYT-VPS16. Our cases widen the phenotypic spectrum of DYT-VPS16 and may provide physicians with a new clinical clue for this disease.Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

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De Novo Missense Mutation of VPS16 in a Chinese Patient with Generalized Dystonia with Myoclonus

Abstract: FIG 1. (A) Pedigree charts of the family. Filled and empty symbols indicate individuals affected with dystonia and without dystonia, respectively. -, reference allele; +, mutated allele. (B) Sanger sequencing of the pedigree. Segregation analysis showed that the variant was de novo.

Cited by 4 publications

References 7 publications

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

Voice Tremor in VPS‐16 Gene Mutation: Expanding the Clinical Spectrum

A Novel Pattern of Dystonia in DYT- VPS16

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