Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, People's Republic of China.
Department of Blood Transfusion, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, People's Republic of China.
Int J Neurosci. 2020 Dec;130(12):1192-1198. doi: 10.1080/00207454.2020.1730831. Epub 2020 Mar 9.
Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD). The late-onset MADD is often muscle involved, presenting with lipid storage myopathy (LSM). The symptoms of LSM were heterogeneous and definite diagnosis of this disease depends on the pathology and gene test. Neurological examination, muscle biopsy, and MRI examinations were performed in a patient with a novel missense ETFDH mutation. We describe a patient with lipid storage myopathy complicated with skin damage. In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be a disease-causing mutation by Mutation-taster, and destroy the function of the protein by Sift. These findings expand the known mutational spectrum of ETFDH and phenotype of MADD.
ETFDH 基因突变与多种酰基辅酶 A 脱氢酶缺乏症（MADD）有关。晚发性 MADD 通常涉及肌肉，表现为脂质贮积性肌病（LSM）。LSM 的症状具有异质性，该疾病的明确诊断取决于病理学和基因检测。对一名具有新型错义 ETFDH 突变的患者进行了神经学检查、肌肉活检和 MRI 检查。我们描述了一位患有脂质贮积性肌病并伴有皮肤损伤的患者。此外，下一代在 8 号外显子中发现了一个新的错义突变（c.970G>T，p.Val324Leu），该突变被 Mutation-taster 预测为致病突变，并通过 Sift 破坏了蛋白质的功能。这些发现扩展了已知的 ETFDH 突变谱和 MADD 的表型。
