Ngoh Adeline, Bras Jose, Guerreiro Rita, McTague Amy, Ng Joanne, Meyer Esther, Chong W Kling, Boyd Stewart, MacLellan Linda, Kirkpatrick Martin, Kurian Manju A
Neurosciences Unit, University College London, Institute of Child Health, London, UK.
Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Tremor Other Hyperkinet Mov (N Y). 2017 Apr 13;7:452. doi: 10.7916/D8Q52VBV. eCollection 2017.
Advances in molecular genetic technologies have improved our understanding of genetic causes of rare neurological disorders with features of myoclonus.
A family with two affected siblings, presenting with multifocal polymyoclonus and neurodevelopmental delay, was recruited for whole-exome sequencing following unyielding diagnostic neurometabolic investigations. Compound heterozygous mutations in , a gene previously associated with various epilepsy phenotypes and hearing loss, were identified in both siblings. The mutations included a missense change c.457G>A (p.Glu157Lys), and a novel frameshift mutation c.545del (p.Thr182Serfs*6).
We propose that related diseases should be in the differential diagnosis for children with polymyoclonus.
分子遗传技术的进步增进了我们对具有肌阵挛特征的罕见神经系统疾病遗传病因的理解。
一个有两名患病兄弟姐妹的家庭，表现为多灶性多肌阵挛和神经发育迟缓，在诊断性神经代谢检查无果后被招募进行全外显子组测序。在两名兄弟姐妹中均鉴定出 基因的复合杂合突变，该基因先前与各种癫痫表型和听力损失相关。这些突变包括一个错义变化 c.457G>A（p.Glu157Lys）和一个新的移码突变 c.545del（p.Thr182Serfs*6）。
我们建议，对于患有多肌阵挛的儿童，相关疾病应列入鉴别诊断。
