Novel Homozygous <i>TUBGCP6</i> Variant Impairs Brain Development: Case Report and Literature Review
variant, c.3914C>A (p.Ala1305Glu), classified as a hot variant of uncertain significance (VUS) and predicted likely deleterious.Eighteen cases have been described in the literature with various brain malformation (lissencephaly, corpus callosum abnormalities, and cerebellar atrophy). Our report confirms that TUBGCP6 has an important role in brain development and, when defective, can cause variable patterns of brain malformations associated with complex neurodevelopmental disorders.
Authors
- Veronica Di Pisa
- Caterina Garone (ORCID: https://orcid.org/0000-0003-4928-1037)
- Francesca Montanari (ORCID: https://orcid.org/0000-0002-2102-4226)
- Flavia Palombo (ORCID: https://orcid.org/0000-0002-1639-3764)
- Isabelle Bacchi (ORCID: https://orcid.org/0009-0007-3981-5994)
- Monica Maffei (ORCID: https://orcid.org/0000-0001-5379-034X)
- Giulia Balletto
- Silvia Lelli
- Valentina Gentile
Institutions
- Istituto Giannina Gaslini (IT)
- Medica (Italy) (IT)
- Azienda USL di Bologna (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- University of Genoa (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Journal of Child Neurology
- Published
- 2026-04-25
- DOI
- https://doi.org/10.1177/08830738261439209
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00