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Hermann, A.* ; Kitzler, H.H.* ; Pollack, T.* ; Biskup, S.* ; Krüger, S.* ; Funke, C.* ; Terrile, C. ; Haack, T.B.

A case of beta-propeller protein-associated neurodegeneration due to a heterozygous deletion of WDR45.

Tremor Other Hyperkinet. Mov. 7:465 (2017)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Beta-propeller Protein-associated Neurodegeneration ; Bpan ; Nbia ; Senda ; Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood ; Wdr45
ISSN (print) / ISBN 2160-8288
e-ISSN 2160-8288
Zeitschrift Tremor and other hyperkinetic movements
Quellenangaben Band: 7, Heft: , Seiten: , Artikelnummer: 465 Supplement: ,
Verlag Center for Digital Research and Scholarship
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)