A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

作者：Lu Yongping; Ondo Yumiko; Shimojima Keiko; Osaka Hitoshi; Yamamoto Toshiyuki

来源：Hum Genome Var, 2017, 4(1): 17035-17035.

DOI：10.1038/hgv.2017.35

The tubulin beta-4A gene (TUBB4A) 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 TUBB4A 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 TUBB4A disorder would constitute a spectrum disorder.

• 出版日期2017
• 单位南方医科大学