Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. Methods We investigate...
微基因是一个提供个人基因检测、临床应用研究和科研合作的综合平台,提供祖源溯源,遗传疾病,健康预测,运动基因,营养代谢,药物指南、心理特质、皮肤特性、生活指导等全面数据分析。
Aim: This study aims to elucidate the independent role of mitochondria in the pathogenesis of insulin resistance (IR). Methods: Cybrids derived from 143B osteosarcoma cell line and harboring the same nuclear DNA but different mitochondrial haplogroups were studied. Cybrid B4 (the major diabetes-...
Sengers syndrome is a genetic mitochondrial disease. Most children born with it die as babies, but a milder form of the disease also exists with some people surviving for multiple decades. The new research, which involved a collaboration between the University of Melbourne's Bio21 Institute, the...
The syndrome is transmitted in an autosomal recessive pattern. Progressive cardiac failure is the cause of death in most patients. This report describes cardiac transplantation for the treatment of the cardiomyopathy associated with Sengers' syndrome....
2012a . Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus . Hum. Mutat. 33 : 960 – 962 .Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK...
AGK mutations can alter both phospholipid metabolism and mitochondrial protein biogenesis, contributing to the pathogenesis of Sengers syndrome. We describe the case of an infant carrying a novel homozygous AGK variant, c.518+1G>A, who was born with congenital cataracts, pielic ectasia, critical ...
Case presentation: Here we provide a 20-year follow-up in two siblings with a benign form of Sengers syndrome, expanding the phenotypical spectrum of the disease by reporting a condition of ovarian agenesis. Conclusion: To our knowledge, this report provides the first longitudinal data of ...
Sengers syndrome is a genetic mitochondrial disease. Most children born with it die as babies, but a milder form of the disease also exists with some people surviving for multiple decades. The new research, which involved a collaboration between the University of Melbourne's Bio21 Institute, the...
Sengers syndrome associated with left ventricular non-compaction (LVNC) has not been described.#Genetic testing was used to identify candidateAGKvariants in the proband. The predicted molecular structures were constructed by protein modeling. Exon skipping caused by the identified splicing mutations was ...