A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

摘要: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic diseases characterized by progressive extrapyramidal symptoms and focal in the basal ganglia. β-Propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy childhood adulthood or NBIA 5, an X-linked dominant subtype NBIA.1 Brain MRI studies consistently demonstrate globus pallidus substantia nigra subset patients demonstrating halo hyperintense signal surrounding thin region hypointense on T1-weighted imaging.2 The majority BPAN are female, but several affected males identical phenotypes have been described, most likely harboring postzygotic mutations leading to somatic mosaicism.3 has shown be caused heterozygous WDR45 at Xp11.23. To date, all de novo, no relatives.1,3,4 We report here patient novel c.597_598 deletion mutation WDR45.