Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation
Article first published online: 25 APR 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 2, pages 191–194, February 2013
How to Cite
Kannu, P., Nour, M., Irving, M., Xie, J., Loder, D., Lai, J., Islam, O., MacKenzie, J. and Messiaen, L. (2013), Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation. Clinical Genetics, 83: 191–194. doi: 10.1111/j.1399-0004.2012.01882.x
- Issue published online: 7 JAN 2013
- Article first published online: 25 APR 2012
The following Supporting information is available for this article:
Fig. S1. (a) Chest radiograph – there is a large right paraspinal soft tissue opacity at the base of the right hemithorax, not in the middle mediastinum, as it is not silhouetting the right heart border. (b) Magnetic resonance imaging – axial T2 and coronal inversion recovery (IR) sequences reveals a posterior mediastinal soft tissue mass along the lateral margin of the spinal column. Coronal T1 post gadolinium sequence shows the mass to heterogeneously enhance. Involvement of multiple right-sided neural foramen is well seen on this sequence as well as on the Sagittal T2 sequence. (c) A cluster of maturing ganglion cells within the Schwannian stromal background. Note the increased nuclear to cytoplasmic ratio and multinucleation within these cells compared to a mature ganglion cell. (d) A mature ganglion cell stained with synaptophysin. Note the positive staining within the borders of the intracytoplasmic secretory vesicles at the periphery of the cell.
Table S1. Summary of reported individuals with neurofibromatosis type I and ganglioneuroma
Table S2. Summary of the 10 deep intronic neurofibromatosis type I mutations with mRNA effect reported so far
Additional Supporting information may be found in the online version of this article.
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|CGE_1882_sm_t1.pdf||76K||Supporting info item|
|CGE_1882_sm_t2.pdf||74K||Supporting info item|
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