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A case of beta-propeller protein-associated neurodegeneration due to a heterozygous deletion of WDR45.
Tremor Other Hyperkinet. Mov. 7:465 (2017)
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated neurodegeneration (BPAN). Case Report: Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of WDR45. An initial gene panel and Sanger sequencing approach failed to uncover the molecular defect. Based on the typical clinical and neuroimaging phenotype, quantitative polymerase chain reaction of the WDR45 coding regions was undertaken, and this showed a reduction of the gene dosage by 50% compared with controls. Discussion: An extended search for deletions should be performed in apparently WDR45-negative cases presenting with features of NBIA and should also be considered in young patients with predominant intellectual disabilities and hypertonia/parkinsonism/dystonia.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Beta-propeller Protein-associated Neurodegeneration ; Bpan ; Nbia ; Senda ; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood ; Wdr45
Language
english
Publication Year
2017
HGF-reported in Year
2017
ISSN (print) / ISBN
2160-8288
e-ISSN
2160-8288
Quellenangaben
Volume: 7,
Article Number: 465
Publisher
Center for Digital Research and Scholarship
Publishing Place
New York, NY
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
DOI
10.7916/D8251WB0
Scopus ID
85028083899
PubMed ID
29082105
Erfassungsdatum
2017-09-19