De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

ABSTRACT:

Background

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare, X-linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in WD repeat domain 45(WDR45), which is characterized by iron accumulation in the basal ganglia, however, it may be atypical in early brain MRI.

Methods

Whole exome sequencing was performed for five parents-offspring trios and phenotype-driven data analyses were conducted. All candidate variants were confirmed by Sanger sequencing.

Results

Here, we report five independent children presented variable degree of developmental delay, intellectual disability, and/or epilepsy. Five de

SUBMITTER: Tang X 

PROVIDER: S-EPMC7667327 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature