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Figure 1 Two cases of XP-F with adult-onset neurologic deterioration

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Presentation on theme: "Figure 1 Two cases of XP-F with adult-onset neurologic deterioration"— Presentation transcript:

1 Figure 1 Two cases of XP-F with adult-onset neurologic deterioration
Two cases of XP-F with adult-onset neurologic deterioration Patient 1 (top): panels (A–D) and patient 2 (bottom): panels (E–G). (A and E) Face photographs of patients 1 and 2 demonstrating prominent skin freckling (patient 1) or scarring (open arrows) at the sites of prior basal cell carcinoma resections (patient 2). (B and F) Nuclear family pedigrees for patient 1 (UDP_3675) and patient 2 (UDP_7356). (C and G) Sanger chromatogram for patient 1 and patient 2 demonstrating relevant mutations in both ERCC4 alleles (arrows). (D) Representative image of sural nerve biopsy (embedded in Epon and stained with toluidine blue) from patient 1 demonstrating a decrease in the number of myelinated fibers with evidence of degeneration/regeneration clusters (×400). (H) Measurement of UDS in patient fibroblasts. Values are normalized to those obtained for NER-proficient (C5RO) and NER-deficient (XP51RO) control fibroblasts.8 Cells were irradiated with 24 J/m2 UV and then incubated in the presence of the thymidine analog EdU for 2.5 hours to allow DNA repair. AlexaFluor647 was conjugated to EdU by Click-iT chemistry before fixation, stained with DAPI, and quantification of the fluorescence signal in G1 cells measured by flow cytometry. UDS was measured in duplicate for each cell line in 3 independent experiments. Values represent mean ± SD, ****p < by 1-way ANOVA. Niraj M. Shanbhag et al. Neurol Genet 2018;4:e240 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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