ArticleAmerican journal of human genetics2016
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- Targeting of ELMO2 by thebioRxiv : the preprint server for biology · 2026Article
- Advances in genetics, signaling, and modeling of venous malformations.Frontiers in cardiovascular medicine · 2026Review
- Primary Intraosseous Vascular Malformation in a Child withDentistry journal · 2025Article
- ELMO2 is an essential regulator of carotid artery development.Nature communications · 2025Article
- FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.American journal of human genetics · 2025Article
- ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches.European journal of human genetics : EJHG · 2025Article
- The Single-Cell Triaptosis Regulatory Pattern in the Immune Microenvironment of Keloids.Clinical, cosmetic and investigational dermatology · 2025Article
- Review
- Comparative Morphological, Metabolic and Transcriptome Analyses inFrontiers in cell and developmental biology · 2022Article
- Review
- Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.Dermatopathology (Basel, Switzerland) · 2021Review
- The DOCK protein family in vascular development and disease.Angiogenesis · 2021Review
- Mutations in MC4R facilitate the angiogenic activity in patients with orbital venous malformation.Experimental biology and medicine (Maywood, N.J.) · 2020Article
- A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.Frontiers in pediatrics · 2020Review
- A Low-Cost Time-Correlated Single Photon Counting Portable DNA Analyzer.Sensors (Basel, Switzerland) · 2019Article
- Structure of BAI1/ELMO2 complex reveals an action mechanism of adhesion GPCRs via ELMO family scaffolds.Nature communications · 2019Article
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Authors and funding
21 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families. Individuals with VMOS suffer from life-threatening progressive expansion of the jaw, craniofacial, and other intramembranous bones caused by malformed blood vessels that lack a mature vascular smooth muscle layer. Analysis of primary fibroblasts from an affected individual showed that absence of ELMO2 correlated with a significant downregulation of binding partner DOCK1, resulting in deficient RAC1-dependent cell migration. Unexpectedly, elmo2-knockout zebrafish appeared phenotypically normal, suggesting that there might be human-specific ELMO2 requirements in bone vasculature homeostasis or genetic compensation by related genes. Comparative phylogenetic analysis indicated that elmo2 originated upon the appearance of intramembranous bones and the jaw in ancestral vertebrates, implying that elmo2 might have been involved in the evolution of these novel traits. The present findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones.
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