A patient with Beta-Propeller Protein-Associated Neurodegeneration: a new missense mutation of the WDR45 gene
Published Online: Jul 01, 2022
Page range: -
Received: May 17, 2022
Accepted: Jun 15, 2022
DOI: https://doi.org/10.2478/joepi-2022-0001
© 2022 Anastasia Ivanova et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Introduction
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
Case presentation
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.
Discussion
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