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

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...

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Detalles Bibliográficos
Autores principales: Hashiguchi, Marina, Monden, Yukifumi, Nozaki, Yasuyuki, Watanabe, Kazuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamagata, Takanori, Osaka, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9166743/
https://www.ncbi.nlm.nih.gov/pubmed/35661708
http://dx.doi.org/10.1038/s41439-022-00198-6
Descripción
Sumario: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.

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