A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Marina HashiguchiYukifumi MondenYasuyuki NozakiKazuki WatanabeMitsuko NakashimaHirotomo SaitsuTakanori YamagataHitoshi OsakaPublished in: Human genome variation (2022)
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.
Keyphrases
- intellectual disability
- early onset
- copy number
- magnetic resonance imaging
- deep brain stimulation
- autism spectrum disorder
- tyrosine kinase
- single cell
- multiple sclerosis
- climate change
- computed tomography
- mental health
- young adults
- magnetic resonance
- transcription factor
- contrast enhanced
- genome wide identification