Two New Cases Expand the Phenotypic Spectrum of <scp><i>TUBG1</i></scp> Missense Variants

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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-04-29
DOI
https://doi.org/10.1002/ajmg.a.64095
Primary Topic
Microtubule and mitosis dynamics
Type
article
Field-Weighted Citation Impact
0.00

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article

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

Raquel Rabionet, Shannon C. Shipley, Andrew E. Timms, Andrew K. Sobering et al.
1 links
American Journal of Medical Genetics Part A
Microtubule and mitosis dynamics
article

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

Raquel Rabionet, Shannon C. Shipley, Andrew E. Timms, Andrew K. Sobering, Roser Urreizti, Tomoki Nomakuchi, Mohamed Idries, Jessica Vissicchio, Mercedes Serrano, Ghayda Mirzaa, Elizabeth Bhoj, Tyhiesia Donald, Mónica Cozar
article en

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.

American Journal of Medical Genetics Part AVol. 197(9)
Hospital Sant Joan de Déu Barcelona (ES), Children's Hospital of Philadelphia (US), St. George's University (GD), University of Georgia (US), University of Washington (US), Instituto de Salud Carlos III (ES), Augusta University Health (US), Windward Islands Research and Education Foundation (GD), Centre for Biomedical Network Research on Rare Diseases (ES), Brotman Baty Institute (US), Instituto de Investigación de Enfermedades Raras (ES), Institut de Recerca Sant Joan de Déu, Universitat de Barcelona (ES), University of Pennsylvania (US)
Generalitat de Catalunya
Good health and well-being
Openalex Percentile: Top 90%
Microtubule and mitosis dynamics
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