Novel neurofibromatosis type 2 mutation presenting with status epilepticus
Novel neurofibromatosis type 2 mutation presenting with status epilepticus
复制标题
DOI：
10.1684/epd.2014.0647
复制
发表时间：
2014-03-01
影响因子：
2.3
通讯作者：
Ferrarese, Carlo
中科院分区：
文献类型：
--
作者：
DiFrancesco, Jacopo C.;Sestini, Roberta;Ferrarese, Carlo
2型神经纤维瘤病（NF2）是一种显性遗传综合征，由肿瘤抑制因子NF2（编码梅林蛋白）突变引起。突变与中枢神经系统中良性肿瘤发展的倾向有关。尽管大脑皮质病变经常与癫痫发作相关，但NF2很少描述癫痫。在这里，我们描述了一个成人的情况下，NF2的症状发作的特点是癫痫持续状态。在这个病人中，我们发现了新的c。NF2中的428_430delCTTdel突变，涉及氨基末端FERM结构域，这是该蛋白正确的肿瘤抑制功能的基础。生物信息学分析揭示了一个重要的结构扰动的FERM域，与抗肿瘤活性的预测减值。
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.