Department of Child Neurology, VU University Medical Center, Amsterdam; Neuroscience Campus Amsterdam, Amsterdam.
Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16.
Hypomyelinating disorders of the central nervous system are still a diagnostic challenge, as many patients remain without genetic diagnosis. Using magnetic resonance imaging (MRI) pattern recognition and whole exome sequencing, we could ascertain compound heterozygous mutations in RARS in 4 patients with hypomyelination. Clinical features included severe spasticity and nystagmus. RARS encodes the cytoplasmic arginyl-tRNA synthetase, an enzyme essential for RNA translation. This protein is among the subunits of the multisynthetase complex, which emerges as a key player in myelination.
中枢神经系统脑白质发育不良仍是一个诊断难题，因为许多患者仍未得到基因诊断。我们通过磁共振成像（MRI）模式识别和外显子组测序，在 4 名脑白质发育不良患者中确定了 RARS 的复合杂合突变。临床特征包括严重的痉挛和眼球震颤。RARS 编码细胞质精氨酰-tRNA 合成酶，这是一种 RNA 翻译所必需的酶。这种蛋白质是多合成酶复合物的亚基之一，是髓鞘形成的关键因素。
