1. Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
- Author
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Al-Bakheet A, Tohary M, Khan S, Chedrawi A, Edrees A, Tous E, Al-Mousa H, Al-Otaibi L, AlShahrani S, Alsagob M, Al-Quait L, Almass R, Al-Joudi H, Monies D, Al-Semari A, Aldosary M, Daghestani M, Colak D, Kaya N, and Al-Owain M
- Subjects
- Adult, Anemia etiology, Brain Diseases complications, Brain Diseases diagnostic imaging, Child, Female, Humans, Infant, Magnetic Resonance Imaging, Male, Neutropenia etiology, Pedigree, Thrombocytopenia etiology, Young Adult, Brain Diseases blood, Brain Diseases genetics, Microtubule-Associated Proteins genetics, Mutation, Missense
- 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., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2021
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