Year: 2025
Type: article
Study design: Case Report
Abstract: The gamma-tubulin ring complex (γ-TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ-TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations. We describe two missense variants in TUBG1 and their associated clinical phenotypes. One individual has microcephaly, epilepsy, and a simplified gyral pattern with a TUBG1 variant interpreted as pathogenic. The other individual has a likely pathogenic TUBG1 variant that explains the milder presentation of autism spectrum disorder, intellectual disability, later-onset well-controlled epilepsy, a normocephalic head size, and no detectable structural abnormalities on neuroimaging.
DOI: 10.1002/ajmg.a.64095
Institutions: Hospital Sant Joan de Déu Barcelona, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Institut de Recerca Sant Joan de Déu, University of Georgia, Augusta University, St. George's University, Institut de Biomedicina de la Universitat de Barcelona, Universitat de Barcelona, Children's Hospital of Philadelphia, University of Pennsylvania, University of Washington, Brotman Baty Institute, Seattle Children's Research Institute, Windward Islands Research and Education Foundation
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,710
Award: G1877606275
OpenAlex ID: W4409926800