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© 1994 Oxford University Press

OTHER

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

Laurence M. Boon1, John B. Mulliken1, Milkka Vikkula2, Hugh Watkins3, John Seidman3, Bjorn R. Olsen2 and Matthew L. Warman2,4,*

1Division of Plastic Surgery, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 2Department of Cell Biology, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 3Department of Genetics, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 4Division of Genetics, Children's Hospital, Harvard Medical School Boston, MA 02115, USA

*To whom correspondence should be addressed

Received April 22, 1994; Revised July 10, 1994; Accepted July 10, 1994

Venous malformation is the most common type of vascular anomaly. Depending upon size and location, these slow-flow anomalies may cause pain, anatomic distortion, or threaten life. Most venous malformations occur sporadically and present as solitary lesions. They also occur in several syndromes, some of which demonstrate Mendelian inheritance. We have mapped the locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. The {alpha} and ß interferon gene cluster and the putative tumor suppressor genes MTS1 and MTS2 are also in this region. Characterization of the gene responsible for this disorder should yield insights into the precise pathogenic mechanisms for venous malformations.


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