PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review - 12/01/23
Abstract |
Progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT) is a severe and rare progressive neurodegenerative disease (OMIM 617913). This condition has been described in individuals with pathogenic variants affecting tubulin-specific chaperone protein D (TBCD), which is responsible for proper folding and assembly of tubulin subunits. Here we describe two unrelated infants from Central America presenting with worsening neuromuscular weakness, respiratory failure, polyneuropathy, and neuroimaging findings of severe cerebral volume loss with thin corpus callosum. These individuals harbored the same homozygous variant of uncertain significance in the TBCD gene on whole exome sequencing (WES). Predicted protein modeling of this variant confirmed disruption of the protein helix at the surface of TBCD. The goal of this report is to emphasize the importance of rapid WES, careful interpretation of uncertain variants, prognostication, and family counseling especially when faced with a neurodegenerative clinical course.
Le texte complet de cet article est disponible en PDF.Keywords : PEBAT, Hypotonia, TBCD, WES, Neurodegeneration
Plan
Conflicts of interest statement: The authors of this manuscript have no financial or personal conflict of interest to disclose. |
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Funding: This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. |
Vol 139
P. 59-64 - février 2023 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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