TY - T1的小说在RMND1突变呈现与肌张力障碍和癫痫(P4.168) JF -神经学乔-神经学六世- 88 - 16补充SP - P4.168盟玛丽亚J Sanchez-Quin首页tero AU -卡洛斯·洛佩兹·戈麦斯盟Uta Lichter-konecki AU -劳拉Pisani盟-詹姆斯·里维耶洛盟渡Hirano AU -卡塔琳娜州Quinzii Hirano Y1 - 2017/04/18 UR - //www.ez-admanager.com/content/88/16_Supplement/P4.168.abstract N2 -目的:描述一名3岁男孩岁7个月发作和肌张力障碍,在发烧的设置新型复合杂合的RMND1突变。背景:突变RMND1、编码RMND1(减数分裂所需的核一级),线粒体蛋白质的未知函数,在20个病人已报告与早发性encephaloneuromyopathy癫痫、听力障碍、肾病和早期死亡率。实验室研究已经证明降低生化活动和水平的线粒体呼吸链酶由于受损的线粒体蛋白质合成。设计/方法:non-consanguineous父母的这个孩子发育正常年龄5个月之前,当他开始减肥。岁7个月,DTAP之后,他开发了一个焦点与左胳膊和腿抽搐发作和次要的泛化。脑部核磁共振成像显示病灶扩散限制在右额颞叶区域。他是治疗病毒性脑炎。他反复发作,包括婴儿痉挛症,在多的抗癫痫药物和发达的右腿肌张力障碍。他也体现精神运动发育迟滞。听力和肾脏功能正常,但他开发的低钠血症。结果:全外显子组测序在病人显示两个小说在RMND1突变:错义突变c.1316A> T (p.E439V)和剪切位点突变(c.614-2T> C)。父母每个携带一个突变。 Sequencing of the cDNA from the patient skin fibroblasts uncovered an alternative transcript containing an in-frame deletion of 6 nucleotides, resulting in the lack of two amino acids in the protein (D205_A206del). The patient fibroblasts showed biochemical defects of the mitochondrial complex I, III and IV and defect of mitochondrial protein synthesis.Conclusions: Although our patient’s fibroblasts manifested molecular and biochemical defects similar to those of other children with mutations in RMND1, the boy’s clinical presentation differed from reported cases. This report confirms the clinical heterogeneity of RMND1 mutations and its importance in mitochondrial protein synthesis.Disclosure: Dr. Sanchez-Quintero has nothing to disclose. Dr. Lopez Gomez has nothing to disclose. Dr. Lichter-konecki has nothing to disclose. Dr. Pisani has nothing to disclose. Dr. Rivello has received personal compensation for activities with Best Doctors. Dr. Riviello's spouse has received personal compensation in an editorial capacity for Up To Date. Dr. Hirano has received (royalty or license fee or contractual rights) payments from MitoRainbow Therapeutics, Inc. Dr. Quinzii Hirano has nothing to disclose. ER -