Research Article

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome

  1. I. Thiffault1,2,3,
  2. C.E. Schwartz5,
  3. V. Der Kaloustian1,4,
  4. W.D. Foulkes1,2,3,*

Article first published online: 28 AUG 2004

DOI: 10.1002/ajmg.a.30335

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 130A, Issue 2, pages 123–127, 1 October 2004

Additional Information

How to Cite

Thiffault, I., Schwartz, C.E., Der Kaloustian, V. and Foulkes, W.D. (2004), Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome. Am. J. Med. Genet., 130A: 123–127. doi: 10.1002/ajmg.a.30335

Author Information

  1. 1

    Department of Human Genetics, McGill University, Montreal, Quebec, Canada

  2. 2

    Cancer Prevention Centre, Sir MB Davis-Jewish General Hospital, McGill University, Montreal, Quebec, Canada

  3. 3

    Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada

  4. 4

    The Montreal Children's Hospital, Montreal, Quebec, Canada

  5. 5

    Greenwood Genetics Center, Greenwood, South Carolina

*Montreal General Hospital, Room L10-120, 1650 Cedar Avenue, Montreal, Quebec, Canada, H3G 1A4.

Publication History

  1. Issue published online: 15 SEP 2004
  2. Article first published online: 28 AUG 2004
  3. Manuscript Accepted: 19 MAY 2004
  4. Manuscript Received: 30 JAN 2004

Funded by

  • Cancer Research Society, Inc. (to W.D.F. and C.E.S.)

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Keywords:

  • Proteus syndrome;
  • PTEN;
  • GPC3;
  • mutation analysis;
  • overgrowth

Abstract

Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome. However, germ-line PTEN mutations have been reported in patients with Proteus and in “Proteus-like disorders.” Other studies of patients with Proteus syndrome have not supported these findings. In this study, affected and unaffected tissue from six patients diagnosed with Proteus syndrome were screened by direct sequencing of genomic DNA to determine if there might be an association between germ-line or somatic mutations in PTEN or GPC3 and the development of Proteus syndrome. No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients. © 2004 Wiley-Liss, Inc.

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