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August 2021; 7 (4) Clinical/Scientific NotesOpen Access

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Changrui Xiao, Thomas Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William Gahl, Camilo Toro
First published July 15, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000606
Changrui Xiao
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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Thomas Markello
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: markellot@mail.nih.gov
Wadih M. Zein
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: zeinw@nei.nih.gov
Rachel Bishop
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: rbishop6@jhmi.edu
Catherine Groden
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: cgroden@mail.nih.gov
William Gahl
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: gahlw@mail.nih.gov
Camilo Toro
From the National Human Genome Research Institute (C.X.), Bethesda, MD; Office of the Clinical Director (T.M.), National Human Genome Research Institute, Bethesda, MD; National Eye Institute (W.M.Z., R.B.), Bethesda, MD; NIH Undiagnosed Diseases Program (C.G., W.G., C.T.), National Human Genome Research Institute, Bethesda, MD.
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  • For correspondence: toroc@mail.nih.gov
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Citation
PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1
Changrui Xiao, Thomas Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William Gahl, Camilo Toro
Neurol Genet Aug 2021, 7 (4) e606; DOI: 10.1212/NXG.0000000000000606

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    Figure 1 Imaging and Genetic Testing Results

    (A) MRI fluid-attenuated inversion recovery shows normal striatum (left) and midbrain (right). (B) Single nucleotide polymorphism microarray (SNP array) data for all chromosomes show loss of heterozygosity in chromosome 1 in an otherwise normal background. (C) Sanger sequencing confirmed deletion in the proband, heterozygosity in father, and no deletion in the mother.

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