GET THE APP

..

Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

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.

PDF

Share this article

Google Scholar citation report
Citations: 3919

Molecular and Genetic Medicine received 3919 citations as per Google Scholar report

Molecular and Genetic Medicine peer review process verified at publons

Indexed In

 
arrow_upward arrow_upward