Figure Pedigree, images, and mutation analysis of the neuroferritinopathy family Pedigree, images, and mutation analysis of the neuroferritinopathy family.

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Date of download: 5/30/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Biotin-Responsive Basal Ganglia Disease in Ethnic.

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Copyright © 2012 American Medical Association. All rights reserved.

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Presentation transcript:

Figure Pedigree, images, and mutation analysis of the neuroferritinopathy family Pedigree, images, and mutation analysis of the neuroferritinopathy family (A) Pedigree of the neuroferritinopathy family. Squares indicate males; circles indicate females; the black symbols indicate affected individuals; diagonal lines across symbols indicate deceased individuals; arrow indicates the proband; *indicates the individuals who carry mutation; #indicates individuals whose DNA samples were not available. (B) Brain CT scan discloses symmetric low density of lenticular nucleus (B.a). MRI exhibits bilateral T1-weighted hypointensity (B.b) and T2-weighted hyperintensity (B.c) in the lenticular nucleus. A bilateral hypointensity of globus pallidus and putamen can be observed in axial fluid-attenuated inversion recovery (B.d). (C) Chromatogram of the novel FTL c.467_470dupGTGG mutation. The upper panel is a normal sequence, whereas the lower panel represents a heterozygous mutated sequence. (D) Alignment of the wild-type and mutant FTL amino acid sequences and the nucleotide sequences encoding FTL amino acids 155 to the C-terminal end of each polypeptide. Box indicates the duplication of GTGG between bases 467 and 470 in codon 157. Wang Ni et al. Neurol Genet 2016;2:e74 © 2016 American Academy of Neurology