Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient

Stephanie Christoforou; Kyproula Christodoulou; Violetta Anastasiadou; Paola Nicolaides

doi:10.1016/j.ejmg.2019.103765

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient

Eur J Med Genet. 2020 Mar;63(3):103765. doi: 10.1016/j.ejmg.2019.103765. Epub 2019 Sep 16.

Authors

Stephanie Christoforou¹, Kyproula Christodoulou², Violetta Anastasiadou³, Paola Nicolaides⁴

Affiliations

¹ St George's University of London (SGUL), London, UK.
² The Cyprus Institute of Neurology and Genetics (CING), Nicosia, Cyprus; The Cyprus School of Molecular Medicine, Nicosia, Cyprus.
³ The Cyprus School of Molecular Medicine, Nicosia, Cyprus; Archbishop Makarios III Hospital, Nicosia, Cyprus.
⁴ The University of Nicosia Medical School (UNic), Nicosia, Cyprus; The American Medical Center, Nicosia, Cyprus. Electronic address: [email protected].

PMID: 31536831
DOI: 10.1016/j.ejmg.2019.103765

Abstract

Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare genetic disorders characterized by progressive extrapyramidal and other neurological symptoms due to focal iron accumulation in the basal ganglia (Adidi et al., 2016). β-Propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of NBIA caused by heterozygous variants in WDR45 (OMIM: *300526) at Xp11.23. We report the clinical neurophysiological and neuro-imaging findings of a new subtype of BPAN in a 6 year-old female patient, who was identified to have a large de novo WDR45 deletion who presented in the first year of life with early onset global developmental delay, severe cognitive impairment, generalized hypotonia and a corticosteroid responsive epileptic encephalopathy.

Keywords: BPAN; Developmental delay; ESES; Epileptic encephalopathy; NBIA; WDR45 deletion.

Publication types

Case Reports

MeSH terms

Basal Ganglia / diagnostic imaging
Basal Ganglia / pathology
Brain / diagnostic imaging
Brain / pathology
Carrier Proteins / genetics*
Child
Epileptic Syndromes / genetics
Female
Heterozygote
Humans
Iron Metabolism Disorders / diagnosis*
Iron Metabolism Disorders / diagnostic imaging
Iron Metabolism Disorders / genetics
Iron Metabolism Disorders / physiopathology
Magnetic Resonance Imaging
Neuroaxonal Dystrophies / diagnosis*
Neuroaxonal Dystrophies / diagnostic imaging
Neuroaxonal Dystrophies / genetics
Neuroaxonal Dystrophies / physiopathology
Sequence Deletion

Substances

Carrier Proteins
WDR45 protein, human

Supplementary concepts

Neurodegeneration with brain iron accumulation (NBIA)