ArticleAmerican journal of human genetics2013
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 119 citations in OpenAlex.
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- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- Myxoid Glomus Tumors Showing CD34 Expression: A Series of Eight Cases.Diagnostics (Basel, Switzerland) · 2025Article
- Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.JAAD case reports · 2025Article
- Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome.Cancer discovery · 2025Article
- Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.International journal of biological sciences · 2025Review
- Molecular landscape and classification of vascular anomalies.Hematology. American Society of Hematology. Education Program · 2024Review
- Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.American journal of human genetics · 2024Article
- Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.Human molecular genetics · 2024Article
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.International journal of molecular sciences · 2022Review
- Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.Acta dermato-venereologica · 2022Review
- Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.Dermatopathology (Basel, Switzerland) · 2021Review
- Primary glomus tumour of the pituitary gland: diagnostic challenges of a rare and potentially aggressive neoplasm.Virchows Archiv : an international journal of pathology · 2021Article
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- A Molecular Reappraisal of Glomus Tumors and Related Pericytic Neoplasms With Emphasis on NOTCH-gene Fusions.The American journal of surgical pathology · 2020Article
- Trauma Can Induce Telangiectases in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Article
- Multiple Bluish Nodules in a 20-Year-Old Female with Similar Lesions in Her Father.Case reports in dermatological medicine · 2019Article
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Authors and funding
12 authors at 6 institutions in 3 countries.
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Abstract
Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson's two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1-1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes.
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