Back to Search
Start Over
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy.
- Source :
- Children; Dec2021, Vol. 8 Issue 12, p1-7, 7p
- Publication Year :
- 2021
-
Abstract
- Mutations in tubulin-specific chaperon D (TBCD), the gene encoding one of the co-chaperons required for the assembly and disassembly of the α/β-tubulin heterodimers, have been reported to cause perturbed microtubule dynamics, resulting in debilitating early-onset progressive neurodegenerative disorder. Here, we identified two novel TBCD variants, c.1340C>T (p.Ala447Val), and c.817+2T>C, presented as compound heterozygotes in two affected siblings born to unaffected carrier parents. Clinical features included early-onset neurodegeneration, failure to thrive, respiratory failure, hypotonia, muscle weakness and atrophy and seizures. We established the genotype–phenotype relationship of these TBCD pathogenic variants and provided insight into the protein structural alteration that may contribute to this chaperone-associated tubulinopathy. [ABSTRACT FROM AUTHOR]
- Subjects :
- HETEROZYGOSITY
BRAIN diseases
MOLECULAR chaperones
GENETIC mutation
HETERODIMERS
Subjects
Details
- Language :
- English
- ISSN :
- 22279067
- Volume :
- 8
- Issue :
- 12
- Database :
- Complementary Index
- Journal :
- Children
- Publication Type :
- Academic Journal
- Accession number :
- 154415406
- Full Text :
- https://doi.org/10.3390/children8121140