We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the &#945;&#946;-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.
C0029124
Optic Atrophy