ArticleAmerican journal of human genetics2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Mutation of Tubgcp6 induces hematopoietic stem and progenitor cell exhaustion in zebrafish.Communications biology · 2026Article
- Genomic insights into stroke recovery: cross-phenotype associations.Brain communications · 2026Article
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders.Genome medicine · 2025Article
- Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in theMolecular syndromology · 2025Article
- TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.Frontiers in pediatrics · 2025Article
- Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.Brain communications · 2024Article
- Prediction of anti-microtubular target proteins of tubulins and their interacting proteins using Gene Ontology tools.Journal, genetic engineering & biotechnology · 2023Article
- The genetics of autism spectrum disorder in an East African familial cohort.Cell genomics · 2023Article
- Article
- Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.American journal of medical genetics. Part A · 2022Article
- Bi-Allelic c.1746G>T; p.Leu582= Variants inMolecular syndromology · 2022Article
- Sub-centrosomal mapping identifies augmin-γTuRC as part of a centriole-stabilizing scaffold.Nature communications · 2021Article
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Risk of sudden cardiac death in EXOSC5-related disease.American journal of medical genetics. Part A · 2021Article
- Intellectual disability: dendritic anomalies and emerging genetic perspectives.Acta neuropathologica · 2021Review
- Autosomal recessive variants iniScience · 2021Article
- Article
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Authors and funding
37 authors at 13 institutions in 7 countries.
Funding
Abstract
Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies are highly enriched for genes encoding microtubules and microtubule-associated proteins, and this enrichment highlights the critical role for these genes in cortical growth and gyrification. Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay. GCP2 forms the multiprotein γ-tubulin ring complex (γ-TuRC) together with γ-tubulin and other GCPs to regulate the assembly of microtubules. By querying clinical exome sequencing cases and through GeneMatcher-facilitated collaborations, we found three additional families with bi-allelic variation and similarly affected phenotypes including a homozygous variant (c.1843G>C [p.Ala615Pro]) in two families and compound heterozygous variants consisting of one missense variant (c.889C>T [p.Arg297Cys]) and one splice variant (c.2025-2A>G) in another family. Brain imaging from all five affected individuals revealed varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, presumably caused by disruption of neuronal migration. Our data demonstrate that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder, and our data implicate GCP2 as a core component of γ-TuRC in neuronal migrating cells.
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