Short CommunicationHigh-Resolution Physical and Transcript Map of the Locus for Venous Malformations with Glomus Cells (VMGLOM) on Chromosome 1p21–p22
References (18)
- et al.
A gene for inherited cutaneous venous anomalies (“glomangiomas”) localizes to chromosome 1p21–22
Am. J. Hum. Genet.
(1999) - et al.
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2
Cell
(1996) - et al.
Molecular basis of vascular anomalies
Trends Cardiovasc. Med.
(1998) - et al.
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Nat. Genet.
(1997) - Blast Web site,...
- et al.
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p
Hum. Mol. Genet.
(1994) - et al.
Allelic and locus heterogeneity in inherited venous malformations
Hum. Mol. Genet.
(1999) - GeneMap Web site,...
Cited by (33)
Soft Tissue Sarcomas and Mesenchymal Neoplasms of Uncertain Histogenesis With Characteristic Translocations
2019, Practical Soft Tissue Pathology: A Diagnostic Approach A Volume in the Pattern Recognition SeriesClassification and Pathology of Congenital and Perinatal Vascular Anomalies of the Head and Neck
2018, Otolaryngologic Clinics of North AmericaCitation Excerpt :The inherited forms tend to be multiple and continue to appear later in life.88 Based on linkage disequilibrium studies of families with inherited GVM, a locus for GVM (termed GLMN) has been mapped to chromosome 1p21-p22 and codes for a protein of still uncertain function termed glomulin.89–91 The wide phenotypic variation in GVM, and variability of penetrance in affected families, has suggested possible important genotype-phenotype relationships.
Characterization of Glomus Tumors of the Kidney
2018, Clinical Genitourinary CancerCitation Excerpt :Congenital familial multiple glomus tumor leads to multifocal tumors and demonstrates an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance.2 Mutations in the glomulin gene, located in 1p22.1, have been implicated.3 In addition, somatic mutations involving fragile sites on chromosome 1p were found to complete the Knudson 2-hit model, leading to formation of the glomus tumors.4
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations
2013, American Journal of Human GeneticsCitation Excerpt :GVM is transmitted as an autosomal-dominant trait with variable expressivity and incomplete penetrance, which is 92.7% at 20 years of age.3 Genetic studies have localized the disease-causing mutations in glomulin (GLMN) on the short arm of chromosome 1 (1p22.1).4–6 To date, 40 distinct germline mutations have been identified in 162 families3,7,8 (P.B., L.M.B., M.W., J.B.M., and M.V., unpublished data).
Pediatric vascular tumors and malformations
2010, Surgical Pathology ClinicsThe effect of genetic diversity on angiogenesis
2006, Experimental Cell Research
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