Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

doi:10.1002/ana.25879

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Article

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Annals of neurology - 1 Nov 2020

Steel Dora, Zech Michael, Zhao Chen, Barwick Katy E S, Burke Derek, Demailly Diane, Kumar Kishore R, Zorzi Giovanna, Nardocci Nardo, Kaiyrzhanov Rauan, Wagner Matias, Iuso Arcangela, Berutti Riccardo, Škorvánek Matej, Necpál Ján, Davis Ryan, Wiethoff Sarah, Mankad Kshitij, Sudhakar Sniya, Ferrini Arianna, Sharma Suvasini, Kamsteeg Erik-Jan, Tijssen Marina A, Verschuuren Corien, van Egmond Martje E, Flowers Joanna M, McEntagart Meriel, Tucci Arianna, Coubes Philippe, Bustos Bernabe I, Gonzalez-Latapi Paulina, Tisch Stephen, Darveniza Paul, Gorman Kathleen M, Peall Kathryn J, Bötzel Kai, Koch Jan C, Kmieć Tomasz, Plecko Barbara, Boesch Sylvia, Haslinger Bernhard, Jech Robert, Garavaglia Barbara, Wood Nick, Houlden Henry, Gissen Paul, Lubbe Steven J, Sue Carolyn M, Cif Laura, Mencacci Niccolò E, Anderson Glenn, Kurian Manju A, Winkelmann Juliane

Abstract excerpt

OBJECTIVES: The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses. METHODS: We undertook weighted burden analysis of whole-exome sequencing (WES) data from 138 individuals with unresolved generalized dystonia of suspected genetic etiology,...

Topics

Adult
Cost of Illness
Dystonia
Exome
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fibroblasts

Genetic Predisposition to Disease

Genetic Variation

Humans

Lysosomal Storage Diseases

Male

Middle Aged

Mutation

Pedigree

Vesicular Transport Proteins

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Open in PubMed

Identifiers

PMID: 32808683
DOI: 10.1002/ana.25879

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