John Libbey Eurotext

Novel neurofibromatosis type 2 mutation presenting with status epilepticus Volume 16, issue 1, March 2014

Figures

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Authors
1 Department of Neurology, San Gerardo Hospital and Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Monza
2 Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Florence
3 Department of Biosciences, University of Milano, Milano
4 Medical Genetics Lab, San Gerardo Hospital, Monza
5 Obstetrics and Gynecological Clinic, S. Gerardo Hospital, Monza, Italy
* Correspondence: Jacopo C. DiFrancesco Department of Neurology, San Gerardo Hospital, Laboratory of Neurobiology, Department of Surgery and Interdisciplinary Medicine, University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy

Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. In this patient, we identified the novel c.428_430delCTTdel mutation in NF2, involving the amino-terminal FERM domain, which is fundamental for the correct tumour suppressor function of the protein. Bioinformatic analyses revealed an important structural perturbation of the FERM domain, with a predicted impairment of the anti-tumour activity.