Navigation auf zora.uzh.ch

Search ZORA

ZORA (Zurich Open Repository and Archive)

Migration von ZORA auf die Software DSpace

ZORA will change to a new software on 8th September 2025. Please note: deadline for new submissions is 21th July 2025!

Information & dates for training courses can be found here: Information on Software Migration.

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis

Tomiyasu, A; et al; Jung, H H (2011). Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. American Journal of Medical Genetics. Part B, 156(5):620-631.

Abstract

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In the present study, we performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis, of the VPS13A gene in ChAc patients. All 73 exons and flanking regions of VPS13A were sequenced in 35 patients diagnosed with ChAc. To detect CNVs, we also performed real-time quantitative PCR and long-range PCR analyses for the VPS13A gene on patients in whom only a single heterozygous mutation was detected. We identified 36 pathogenic mutations, 20 of which were previously unreported, including two novel CNVs. In addition, we investigated the expression of chorein in 16 patients by Western blotting of erythrocyte ghosts. This demonstrated the complete absence of chorein in patients with pathogenic mutations. This comprehensive screen provides an accurate and useful method for the molecular diagnosis of ChAc.

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Health Sciences > Psychiatry and Mental Health
Life Sciences > Cellular and Molecular Neuroscience
Language:English
Date:2011
Deposited On:07 Nov 2011 10:04
Last Modified:16 Jul 2025 03:34
Publisher:Wiley-Blackwell
ISSN:1552-4841
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.b.31206
PubMed ID:21598378

Metadata Export

Statistics

Citations

Dimensions.ai Metrics
52 citations in Web of Science®
59 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 07 Nov 2011
0 downloads since 12 months
Detailed statistics

Authors, Affiliations, Collaborations

Similar Publications