在一名青春期后发病的低髓鞘性脑白质营养不良患者中鉴定出一种新的G96R突变。
A novel mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.
作者信息
Lu Yongping, Ondo Yumiko, Shimojima Keiko, Osaka Hitoshi, Yamamoto Toshiyuki
机构信息
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Department of Pediatrics, Jichi Medical University, Shimotuke, Japan.
出版信息
Hum Genome Var. 2017 Aug 3;4:17035. doi: 10.1038/hgv.2017.35. eCollection 2017.
The tubulin beta-4A gene () is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological symptoms beyond adolescence. This patient shows intermediate clinical features between DYT4 and H-ABC, suggesting that the disorder would constitute a spectrum disorder.
微管蛋白β-4A基因（）与两种不同的临床病症相关，即4型肌张力障碍（DYT4）和基底神经节与小脑萎缩性低髓鞘化（H-ABC）。我们在一名成年男性患者中发现了一种新的突变，即c.286G>A（p.G96R），该患者在青春期后出现神经症状。该患者表现出DYT4和H-ABC之间的中间临床特征，提示该病症可能构成一种谱系障碍。
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