A scientific paper about BPAN recently published in the journal Autophagy has created some confusion within the community of BPAN families, friends, and caregivers. Entitled “WDR45, one gene associated with multiple developmental disorders,” the paper suggests that gene mutations in WDR45 lead to six separate disorders rather than just BPAN. As you can imagine, this suggestion could make parents question whether their child has the right diagnosis. This paper was written by a team that reviewed the available literature, but has limited clinical experience working with BPAN.

As the team that discovered the gene for BPAN and has deep clinical experience working with patients and running the largest natural history study, we want to reaffirm our strong belief that BPAN is the only disorder associated with gene mutations in WDR45. As you know, BPAN is complicated by several factors:

the gene is located on the X chromosome

patients have new, often unique changes that are rarely inherited from a parent

most patients are “mosaic” in some way, meaning they have some cells with the active gene change and some without, which can vary from tissue to tissue

All these factors lead to a very wide range of variation in BPAN. We see variation in age of onset, motor skills, intellectual function, language, presence or absence of seizures, seizure types, and more. However, equally important, we also see overlap among individuals with BPAN that link them all to their common gene. While a child with BPAN may have various descriptions used, such as “Rett-like” or “epileptic encephalopathy,” their primary diagnosis and the underlying cause of their disease is still BPAN.

Unfortunately, this paper also has a significant error in describing a key MRI finding in BPAN. We sincerely hope the authors will take steps to rectify this with the journal so the community of readers can be notified.