ArticleMolecular syndromology2013
Genotypes and phenotypes of 162 families with a glomulin mutation.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 69 citations in OpenAlex.
- SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.American journal of medical genetics. Part A · 2026Article
- Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.JAAD case reports · 2025Article
- Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.International journal of biological sciences · 2025Review
- The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.Journal of vascular anomalies · 2023Review
- The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.International journal of molecular sciences · 2022Review
- Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.Journal of clinical medicine · 2022Article
- Article
- Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.Dermatopathology (Basel, Switzerland) · 2021Review
- Genetic syndromes with vascular malformations - update on molecular background and diagnostics.Archives of medical science : AMS · 2021Article
- The Many Faces of FKBP51.Biomolecules · 2019Review
- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.American journal of human genetics · 2019Article
- Multiple Bluish Nodules in a 20-Year-Old Female with Similar Lesions in Her Father.Case reports in dermatological medicine · 2019Article
- FKBP51 and FKBP12.6-Novel and tight interactors of Glomulin.PloS one · 2019Article
- Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.Molecular syndromology · 2013Article
Corrections and comments
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Authors and funding
20 authors at 15 institutions in 6 countries.
Funding
Abstract
A decade ago, we identified a novel gene, glomulin (GLMN) in which mutations cause glomuvenous malformations (GVMs). GVMs are bluish-purple cutaneous vascular lesions with characteristic glomus cells in the walls of distended venous channels. The discovery of the genetic basis for GVMs allowed the definition of clinical features to distinguish GVMs from other venous anomalies. The variation in phenotype was also highlighted: from a single punctate blue dot to a large plaque-like lesion. In this study, we screened GLMN in a large cohort of patients to broaden the spectrum of mutations, define their frequency and search for possible genotype-phenotype correlations. Taking into account 6 families published by others, a mutation in GLMN has been found in 162 families. This represents 40 different mutations; the most frequent one being present in almost 45% of them. Expressivity varies largely, without a genotype/phenotype relationship. Among 381 individuals with a mutation, we discovered 37 unaffected carriers, implying a penetrance of 90%. As nonpenetrant individuals may transmit the disease to their descendants, knowledge on the mutational status is needed for appropriate genetic counseling.
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