Abstract
Here we describe a case of Neurofibromatosis type 1 (NF1) associated with an atypical histiocytic lesion and a new pathogenic mutation. The genetic analysis revealed an heterozygous mutation in the 5′ splice site of intron 32, 6,084 + 1G → T. Histopathological findings are compatible with juvenile xanthogranuloma. The new, not already described, splicing mutation, is possibly partly responsible of the association between NF1 and the histiocitic lesion.
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Acknowledgments
The authors thank Manuela Priolo and Carmelo Laganà (Azienda Ospedaliera, Reggio Calabria, Italy) for molecular testing and also Prof Alessandra Renieri, Paola Rottoli, Simone Rossi, Monica Ulivelli for critical supervision of the work.
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Bianco, G., Greco, G., Antonelli, M. et al. An histologically atypical NF-type 1 patient with a new pathogenic mutation. Neurol Sci 33, 1483–1485 (2012). https://doi.org/10.1007/s10072-011-0897-5
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DOI: https://doi.org/10.1007/s10072-011-0897-5