Keilland E, Rupar C A, Prasad Asuri N, Tay K Y, Downie A, Prasad C
Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
Mol Genet Metab Rep. 2016 Feb 22;6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar.
m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).
MT-TL1基因中的m.3291T>C突变很少与线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）相关联，然而从临床角度来看，其特征仍不明确。在以下报告中，我们详细描述了一个因m.3291T>C突变而患有MELAS的白种人家庭的表型特征、长期随访（>7年）及治疗情况，并回顾了关于m.3291T>C突变的文献。先证者的临床表型包括MELAS、MERRF（肌阵挛性癫痫伴破碎红纤维综合征）、MNGIE（线粒体神经胃肠性脑病）、KSS（卡恩斯-塞尔综合征）和CPEO（慢性进行性眼外肌麻痹）的重叠特征。
