Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegenerative disorder; its estimated prevalence is 2 to 3 per million individuals. All published cases of BPAN have been sporadic, with a clear female predominance and mutations in various exons of the
The study aimed to confirm the diagnosis of BPAN in a 9-year-old girl with a developmental delay since early childhood complicated with intellectual disability, lack of speech and febrile and non-febrile tonic-clonic seizures. The patient also had autistic symptoms as well as some Rett-like symptoms: stereotypical movements of the hands–twisting objects, putting hands in the mouth.
Clinical exome analysis and Sanger sequencing of the proband have been performed to confirm the diagnosis. The novel heterozygous missense mutation c.755T>C of the