Medicina molecular y genética

Novel de novo Mutation in the Autophagy Gene WDR45 Causes BPAN in a Chinese Family

Abstract

Xiao H, Xue Y, Liu Y, Li W, Zhao N, Xiong Q, Li P, Wu C and Yang Y

Mutations in the WDR45 gene have recently been identified as causative for the only X-linked beta-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA) with phenotypically and genetically heterogeneous condition. The clinical features include early-onset global developmental delay, progressive accumulation of iron in the basal ganglia, resulting in physical and neurological deterioration. We herein reported a novel mutation (c.1040-1041del) in exon 12 of WDR45 gene in a 3-year-old Chinese girl, exhibiting developmental delay, seizures, by whole-exome sequencing. Sanger sequencing confirmed the heterozygous mutation was absent in both her parents, and thus it was concluded as a de novo frameshift mutation.