| Summary: | <p><strong>Background:</strong> Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). <em>WDR45</em> mutations were recently identified as causal. <em>WDR45</em> encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated neurodegeneration (BPAN).</p><p><strong>Case Report:</strong> Here we describe a female patient suffering from a classical BPAN phenotype due to a novel heterozygous deletion of <em>WDR45</em>. 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 <em>WDR45</em> coding regions was undertaken, and this showed a reduction of the gene dosage by 50% compared with controls.</p><p><strong>Discussion:</strong> An extended search for deletions should be performed in apparently <em>WDR45-</em>negative cases presenting with features of NBIA and should also be considered in young patients with predominant intellectual disabilities and hypertonia/parkinsonism/dystonia.</p>
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