WDR45

WDR45

A gene on chromosome Xp11.23 that encodes a member of the WD-repeat protein family of unknown function.
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References in periodicals archive ?
To the Editor: Neurodegeneration with brain iron accumulation (NBIA) comprises a group of disorders that manifest as early- or late-onset parkinsonism, dystonia, spasticity, and cognitive impairment.[1] One subtype of NBIA, [sz]-propeller protein-associated neurodegeneration (BPAN), is caused by mutation of the WDR45 gene.
Ranger sequencing analysis revealed a novel heterogeneous splicing mutation (c.977-1 C>T) in WDR45 (transcript variant 1, NM_00707) [Figure 1]b.{Figure 1}
Exome sequencing revealed a novel WDR45 mutation, which resulted in a definitive diagnosis of BPAN.
In conclusion, we report the case of a 9-month-old male infant with a definitive diagnosis of BPAN and a novel WDR45 mutation.