Genetic analysis of a family with hereditary glomuvenous malformations
Authors: Ostberg, Anna1; Moreno, Gilberto1; Su, Tina1; Trisnowati, Niken1; Marchuk, Douglas2; Murrell, Dedee
Source: Australasian Journal of Dermatology, Volume 48, Number 3, August 2007 , pp. 170-173(4)
Publisher: Blackwell Publishing
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Abstract:
SUMMARY Glomuvenous malformations (MIM 138000) are rare vascular malformations consisting of glomus cells, and in affected individuals, lesions may appear in any number anywhere on the body. We analysed the DNA of one family with hereditary glomuvenous malformations and identified the mutation causing the disease in the glomulin gene on chromosome 1 p22. The deletion started at base pair 157: 157delAAGAA, which is a deletion of five base pairs. This mutation has been found in Europe, the USA and Australia, suggesting a founder effect with common ancestry. Thus far, no second-hit mutation for the 157delAAGAA mutation has been identified.Keywords: FAP48; founder effect; glomangioma; glomulin; glomus tumour; multiple hereditary glomangioma; vascular anomaly; vascular neoplasm
Document Type: Research article
DOI: 10.1111/j.1440-0960.2007.00373.x
Affiliations: 1: Department of Dermatology, St George Hospital, Kogarah, New South Wales, Australia, and 2: Department of Molecular Genetics and Microbiology, Duke University Medical Centre, Durham, North Carolina, USA
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