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A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
- Source :
-
International Journal of Molecular Sciences . Aug2023, Vol. 24 Issue 15, p12386. 11p. - Publication Year :
- 2023
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- *CORPUS callosum
*INTELLECTUAL disabilities
*YOUNG women
*DYSPLASIA
Subjects
Details
- Language :
- English
- ISSN :
- 16616596
- Volume :
- 24
- Issue :
- 15
- Database :
- Academic Search Index
- Journal :
- International Journal of Molecular Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 169926866
- Full Text :
- https://doi.org/10.3390/ijms241512386