TY - T1的遭受的可变性与MTO1基因隐性突变有关。乔(P1.299) JF -首页神经-神经学六世- 90 - 15补充SP - P1.299盟瓦伦蒂娜的名叫Emmanuele AU -克丽丝汀De Araujo马丁斯莫雷诺AU -弗朗辛甲壳盟-艾米丽李盟-萨巴特盟-克里斯汀Engelstad盟-罗纳德·小盟渡Hirano Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/P1.299.abstract N2 -目的:本研究的目的是确定潜在的分子病因与线粒体疾病的特点是两个兄弟姐妹肥厚性心肌病(HCM),发育迟缓,智力障碍。背景:线粒体疾病是罕见的遗传疾病的常见原因,但是,由于他们的临床、生化和遗传异质性,其诊断仍具有挑战性。设计/方法:收集临床和实验室数据。进行骨骼肌组织化学研究。下一代DNA测序技术应用于识别分子缺陷。结果:渊源者是一个20岁的绅士,肥厚性心肌病(HCM),智力残疾,广义癫痫、视神经病变、头痛、和焦虑。HCM被诊断出在2周的年龄和稳定没有治疗。婴儿期发育迟缓和未能茁壮成长一被发现,而运动不耐受和焦虑儿童时期发展起来的。在17岁时,他的第一个广义发作,这对治疗和保持稳定。双边视神经病变19岁被诊断出,已逐步恶化。他的哥哥,32岁,是在1岁,被诊断出患有HCM和有类似的疾病,但没有出现癫痫发作和视神经病变,有温和的和不太严重的智力障碍发育迟缓。 Blood lactate was elevated. Muscle biopsy was unremarkable. Whole exome sequencing revealed the presence of two novel heterozygous mutations in MTO1 gene (p.R509W, p.R513*) in both siblings. Each parent carried one mutant allele.Conclusions: MTO1 is involved in the post-transcriptional modification of mitochondrial tRNAs. Recessive mutations in this gene have been described as causative of infantile/childhood onset HCM and lactic acidosis, variably associated with cognitive impairment, optic neuropathy, seizures, and muscle weakness. We show that mutations in MTO1 gene can be associated with significant intra-familial variability in clinical presentation and severity, which can further complicate prediction of clinical outcome.Disclosure: Dr. Emmanuele has nothing to disclose. Dr. De Araujo Martins Moreno has nothing to disclose. Dr. Testa has nothing to disclose. Dr. Li has nothing to disclose. Dr. Tadesse has nothing to disclose. Dr. Engelstad has nothing to disclose. Dr. Lesser has nothing to disclose. Dr. Hirano has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Meves Pharmaceuticals Inc., Stealth BioTherapeutics Inc, and Sarepta Therapeutics Inc. ER -