Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.
Division of Neurology Children's Hospital of Los Angeles Los Angeles California.
Ann Clin Transl Neurol. 2018 Nov 9;6(1):154-160. doi: 10.1002/acn3.661. eCollection 2019 Jan.
encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous missense mutation has been previously described in two separate consanguineous families. We report four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel variants. One variant affected the splice donor site of intron-one (c.41A>G), while the other variant (c.157+3G>C) affected the splice donor site of intron-two. cDNA and protein analysis indicated that no full-length cDNA or protein was generated. These subjects expand the phenotype associated with COX20 deficiency.
编码一个线粒体复合物 IV 组装因子，对 COX2 的激活很重要。此前在两个不同的近亲家庭中仅描述过一个纯合错义突变。我们报告了四个具有以下特征的受试者：儿童期张力减退、反射消失、共济失调、构音障碍、肌张力障碍和感觉性神经病。在所有四个受试者中进行外显子组测序发现了相同的新型变异。一个变异影响了内含子 1 的剪接供体位点（c.41A>G），而另一个变异（c.157+3G>C）影响了内含子 2 的剪接供体位点。cDNA 和蛋白质分析表明没有全长 cDNA 或蛋白质产生。这些受试者扩大了与 COX20 缺乏相关的表型。
