Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
J Inherit Metab Dis. 2022 Nov;45(6):1039-1047. doi: 10.1002/jimd.12550. Epub 2022 Sep 21.
TRIT1 defect is a rare, autosomal-recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical, and metabolic aspects of the disease in all known patients, including two novel, unrelated TRIT1 cases with abnormalities in oxidative phosphorylation complexes I and IV in fibroblasts. Taken together the features of all 15 patients, TRIT1 defect could be identified as a potentially recognizable syndrome including myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and variable microcephaly, with normal lactate levels. Half of the patients had oxidative phosphorylation complex measurements and had multiple complex abnormalities.
TRIT1 缺陷是一种罕见的常染色体隐性转录疾病，最初被描述为一种具有发育迟缓、肌阵挛性癫痫和异常线粒体功能的疾病。目前，仅报道了 13 例患者。我们回顾了所有已知患者的疾病的遗传、临床和代谢方面，包括两名新的、无关的 TRIT1 病例，其成纤维细胞中的氧化磷酸化复合物 I 和 IV 存在异常。综合所有 15 例患者的特征，TRIT1 缺陷可被确定为一种具有潜在可识别性的综合征，包括肌阵挛性癫痫、言语延迟、斜视、进行性痉挛和可变的小头畸形，乳酸水平正常。一半的患者进行了氧化磷酸化复合物测量，存在多种复合物异常。
