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Genetic analysis of a family with hereditary glomuvenous malformations.

Publication ,  Journal Article
Ostberg, A; Moreno, G; Su, T; Trisnowati, N; Marchuk, D; Murrell, DF
Published in: Australas J Dermatol
August 2007

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.

Duke Scholars

Published In

Australas J Dermatol

DOI

ISSN

0004-8380

Publication Date

August 2007

Volume

48

Issue

3

Start / End Page

170 / 173

Location

Australia

Related Subject Headings

  • Skin Neoplasms
  • Pedigree
  • Neoplastic Syndromes, Hereditary
  • Male
  • Humans
  • Glomus Tumor
  • Founder Effect
  • Female
  • Dermatology & Venereal Diseases
  • DNA Mutational Analysis
 

Citation

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ICMJE
MLA
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Ostberg, A., Moreno, G., Su, T., Trisnowati, N., Marchuk, D., & Murrell, D. F. (2007). Genetic analysis of a family with hereditary glomuvenous malformations. Australas J Dermatol, 48(3), 170–173. https://doi.org/10.1111/j.1440-0960.2007.00373.x
Ostberg, Anna, Gilberto Moreno, Tina Su, Niken Trisnowati, Douglas Marchuk, and Dédée F. Murrell. “Genetic analysis of a family with hereditary glomuvenous malformations.Australas J Dermatol 48, no. 3 (August 2007): 170–73. https://doi.org/10.1111/j.1440-0960.2007.00373.x.
Ostberg A, Moreno G, Su T, Trisnowati N, Marchuk D, Murrell DF. Genetic analysis of a family with hereditary glomuvenous malformations. Australas J Dermatol. 2007 Aug;48(3):170–3.
Ostberg, Anna, et al. “Genetic analysis of a family with hereditary glomuvenous malformations.Australas J Dermatol, vol. 48, no. 3, Aug. 2007, pp. 170–73. Pubmed, doi:10.1111/j.1440-0960.2007.00373.x.
Ostberg A, Moreno G, Su T, Trisnowati N, Marchuk D, Murrell DF. Genetic analysis of a family with hereditary glomuvenous malformations. Australas J Dermatol. 2007 Aug;48(3):170–173.
Journal cover image

Published In

Australas J Dermatol

DOI

ISSN

0004-8380

Publication Date

August 2007

Volume

48

Issue

3

Start / End Page

170 / 173

Location

Australia

Related Subject Headings

  • Skin Neoplasms
  • Pedigree
  • Neoplastic Syndromes, Hereditary
  • Male
  • Humans
  • Glomus Tumor
  • Founder Effect
  • Female
  • Dermatology & Venereal Diseases
  • DNA Mutational Analysis