The WDR45 gene is an instruction to build a protein that is important in the body. Specifically, the protein is involved in a process called autophagy that helps cells get rid of or recycle refuse. Most of the changes in the gene that cause BPAN knock out its function so that it cannot make the protein properly. Almost all gene changes are new in the person with BPAN and are not inherited.
Diagnostic testing can target only the WDR45 gene, or a broad approach may be used with special testing panels or more comprehensive tests. Since findings in young children with BPAN (such as developmental delay or seizures) are common, many are diagnosed after comprehensive sequencing or panel testing, such as with a seizure panel or autism panel.
WDR45