Genetic analysis of a family with hereditary glomuvenous malformations.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Ostberg, A; Moreno, G; Su, T; Trisnowati, N; Marchuk, D; Murrell, DF
Published Date
- August 2007
Published In
Volume / Issue
- 48 / 3
Start / End Page
- 170 - 173
PubMed ID
- 17680968
International Standard Serial Number (ISSN)
- 0004-8380
Digital Object Identifier (DOI)
- 10.1111/j.1440-0960.2007.00373.x
Language
- eng
Conference Location
- Australia