PDF(Pubmed)
Abstract：
Beta-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation, is caused by variants in the WDR45 gene. In this paper, we describe a patient with an atypical presentation of BPAN whose whole exome sequencing revealed a previously unattested truncating variant in the WDR45 gene (c.830+3G>C/p.Leu278Ter), the pathogenicity of which was verified by RNA transcriptomics. A number of uncommon neuroanatomic and clinical findings in our patient are discussed, expanding the phenotype associated with BPAN. This unique case challenges existing genotype-phenotype correlations and highlights the role of X chromosome skewing in shaping the clinical spectrum of BPAN.
摘要：
β-螺旋桨蛋白相关神经变性（BPAN），一种伴随脑铁积累的神经变性亚型，是由WDR45基因变异引起的.在本文中,我们描述了一名BPAN非典型表现的患者,其全外显子组测序显示WDR45基因中存在一个先前未经证实的截短变体(c.830+3G>C/p.Leu278Ter)，其致病性已通过RNA转录组学验证。讨论了我们患者中许多罕见的神经解剖和临床表现，扩大与BPAN相关的表型。这个独特的案例挑战了现有的基因型-表型相关性，并强调了X染色体偏斜在塑造BPAN临床谱中的作用。
