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. 2020 Oct 7;10:16736. doi: 10.1038/s41598-020-73557-4

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Identification of the deletion c.1699_1749del51 in the ACO2 gene in a patient with dominant inherited optic nerve atrophy. (a) Family pedigree of the patient. Grey symbol: family members carrying the ACO2 deletion c.1699-1749del51. Red point: clinically affected family member with optic atrophy. Arrow head points to the index patient, from whom we obtained skin fibroblasts for the present study. Deceased individuals are marked with a line. (b) Results of Sanger sequencing of genomic DNA obtained from a healthy individual (ACO2 WT) and the index patient (ACO2 mutant), confirming the identified deletion c.1699-1749del51. (c) Visual field from the ophthalmologic examination of the patient (done in 2011) showing central scotoma of the left (LE) and the right eyes (RE). Dots represent defects surrounded by normal visual field, called scotomas (range: white > 5 dioptries (dB) to black > 30 dB). (d) Funduscopy of the ophthalmologic examination (done in 2011). Temporal paleness of the optic nerve in both eyes. (e) Retinal fibre layer of the optic nerve heads show thinning of the optical nerve fibers in the temporal regions via spectral domain optical coherence tomography (SD-OCT). The retinal fiber layer thickness is shown on the upper right side along the circular scan line (highlighted by green color on the upper left panel). The normal layer thickness is indicated by the green area on the lower right panel. The pathologically thinning of the layer in the temporal sectors of both eyes is indicated by yellow and red color. N nasal, NS/NI nasal superior/inferior, T temporal, TS/TI temporal superior/inferior. (f) Overall structure of the human ACO2 protein. The substrate-binding region is highlighted in blue. The region affected by the deletion is highlighted in red. (g) The stabilizing interactions between the segment 571–583 affected by the deletion (red backbone) and segment 656–684 (green), which passes through the active site and interacts with the substrate. Salt bridges are shown as black dashed lines, and the combined π-π and cation-π interactions are shown as blue dashed line.