Human Genome Variation (Jun 2022)

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

  • Marina Hashiguchi,
  • Yukifumi Monden,
  • Yasuyuki Nozaki,
  • Kazuki Watanabe,
  • Mitsuko Nakashima,
  • Hirotomo Saitsu,
  • Takanori Yamagata,
  • Hitoshi Osaka

DOI
https://doi.org/10.1038/s41439-022-00198-6
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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Abstract TUBB4A gene variants cause dystonia type 4 and hypomyelination with atrophy of the basal ganglia and cerebellum. We report the case of a child with delayed motor development, intellectual disability, and dystonia. Magnetic resonance imaging revealed hypomyelination and progressive cerebellar atrophy without atrophy of the basal ganglia. Whole-exome sequencing revealed a de novo heterozygous variant, c.1088T > C, p.(Met363Thr), in TUBB4A. The present case further supports the vulnerability of the cerebellum in patients with TUBB4A pathogenic variants.