Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity.

Journal Article (Journal Article)

Venous malformations are a common abnormality of the vasculature that may occur sporadically or, more rarely, as an autosomal dominant trait. One familial form of venous malformations has previously been linked to chromosome 9p. Mutations in the gene encoding Tie2, an endothelial specific receptor tyrosine kinase, have been identified in four different families. Glomangiomas are a subtype of venous malformations with glomus cell involvement. These cutaneous lesions can be inherited as an autosomal dominant disease with reduced penetrance and variable expressivity. We present evidence of linkage to chromosome 1p21-1p22 using four new glomangioma families, with a combined maximum two-point lod score of 7.32 at marker D1S2804. Markers D1S2129 and D1S2881 define the 24-cM linkage interval determined by recombination within affected individuals. A recent report also showed linkage of the glomangioma locus to chromosome 1p. A total of 9 families now map to this region, suggesting a decreased likelihood of locus heterogenity in familial glomangiomas. Investigation of candidate genes within the interval should provide new insights into lesion formation in inherited venous malformations.

Full Text

Duke Authors

Cited Authors

  • Calvert, JT; Burns, S; Riney, TJ; Sahoo, T; Orlow, SJ; Nevin, NC; Haisley-Royster, C; Prose, N; Simpson, SA; Speer, MC; Marchuk, DA

Published Date

  • 2001

Published In

Volume / Issue

  • 51 / 3

Start / End Page

  • 180 - 182

PubMed ID

  • 11173970

International Standard Serial Number (ISSN)

  • 0001-5652

Digital Object Identifier (DOI)

  • 10.1159/000053340


  • eng

Conference Location

  • Switzerland