A Variant in <i>TBCD</i> Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report

Abstract

Mutations in the tubulin-specific chaperon D (TBCD) gene, involved in the assembly and disassembly of the α/β-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation. We describe a rare homozygous variant in TBCD, namely c.881G>A/p.Arg294Gln, in a young woman with a phenotype dominated by distal motorneuronopathy and mild mental retardation, with neuroimaging evidence of corpus callosum hypoplasia. The peculiar phenotype is discussed in light of the molecular interpretation, enriching the literature data on tubulinopathies generated from TBCD mutations.

Keywords

• tubulin-specific chaperon D
• distal motoneuronopathy
• tubulinopathy
• corpus callosum hypoplasia