We are studying inherited forms of vascular anomalies and are looking for additional families for linkage studies on a collaborative basis. We have previously published one locus - identified by random genome mapping - for venous malformation (also called cavernous hemangioma) on Chromosome 9p (Boon et al, Hum Molec Genet 3, 1994; 1583-1587). As a collaboration we have also confirmed the linkage using another large family (Gallione et al, J Med Genet 32(3), 1995).
We are currently characterizing a candidate gene in the 9p locus and with several additional families that we have been able to collect, we have identified another locus causing inherited mucocutaneous venous malformations. To narrow down the linked intervals and to clone the defective genes it would help us to have additional families. At this stage we are interested even in small families (with minimum two affected individuals). Therefore we are asking for everybodies help to identify and locate more families with similar phenotype all around the world.
Looking forward to reading from you all.