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

• Published in: European journal of medical genetics Vol. 63; no. 3; p. 103765
• Main Authors: Christoforou, Stephanie, Christodoulou, Kyproula, Anastasiadou, Violetta, Nicolaides, Paola
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.03.2020
• Subjects: BPAN; Developmental delay; Epileptic encephalopathy; ESES; NBIA; WDR45 deletion; NBIA; Epileptic encephalopathy; BPAN; ESES; Developmental delay; WDR45 deletion
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2019.103765

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.