Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype

Abstract

The dysfunction of microtubules (α/β‐tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin‐folding cofactor, cause diseases highlighted with early‐onset encephalopathy with or without neurodegeneration, intellectual disability, seizures, microcephaly and tetraparaperesis. Utilizing various molecular methods, we describe nine patients from four unrelated families with two novel exon 18 variants in TBCD exhibiting the typical neurological phenotype of the disease. Interestingly, all the investigated patients had previously unreported hematological findings in the form of neutropenia and mild degree of anemia and thrombocytopenia. In addition to delineating the neurological phenotype in several patients with TBCD variants, our study stresses on the new association of neutropenia, in particular, with the disease.