ArticleAmerican journal of human genetics2002
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.
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Who cites it
92 citing papers in PubMed, 335 citations in OpenAlex.
- Review
- The Molecular Mechanism and Therapeutic Progress in Glomus Tumor.Cancer medicine · 2026Review
- Prenatal diagnosis of a fetal scalp glomuvenous malformation- a case report.Case reports in perinatal medicine · 2026Article
- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- Pathogenic Glomulin Gene Variant in a Patient with Idiopathic Pulmonary Arterial Hypertension: A Novel Association Case Report.Reports (MDPI) · 2025Article
- Glomulin and cerebral cavernous malformations 2 protein-like mutations in an extensive blaschkoid glomuvenous malformation with polydactyly.JAAD case reports · 2025Article
- Blue Subcutaneous Nodules in a Young Service Member.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2025Article
- Transcriptomics of theEcology and evolution · 2025Article
- Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.International journal of biological sciences · 2025Review
- Diagnosis and Treatment of a Forearm Glomangioma: A Case Study.Journal of orthopaedic case reports · 2025Article
- 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
- Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nature communications · 2023Article
- Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations.Nature communications · 2023Article
- The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.International journal of molecular sciences · 2022Review
- Venous Malformations.Seminars in interventional radiology · 2022Review
- Hand and Foot Glomus Tumors: Significance of MRI Diagnosis Followed by Histopathological Assessment.Cureus · 2022Article
- Article
- Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling.International journal of molecular sciences · 2022Article
- Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.Frontiers in pediatrics · 2022Article
32 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identification of the mutated gene, glomulin, localized on the basis of the YAC and PAC maps. An incomplete cDNA sequence for glomulin had previously been designated "FAP48," for "FKBP-associated protein of 48 kD." The complete cDNA for glomulin contains an open reading frame of 1,785 nt encoding a predicted protein of 68 kD. The gene consists of 19 exons in which we identified 14 different germline mutations in patients with GVM. In addition, we found a somatic "second hit" mutation in affected tissue of a patient with an inherited genomic deletion. Since all but one of the mutations result in premature stop codons, and since the localized nature of the lesions could be explained by Knudson's two-hit model, GVMs are likely caused by complete loss of function of glomulin. The abnormal phenotype of vascular smooth-muscle cells (VSMCs) in GVMs suggests that glomulin plays an important role in differentiation of these cells--and, thereby, in vascular morphogenesis--especially in cutaneous veins.
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