Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome

Am J Med Genet A. 2008 Feb 15;146A(4):464-7. doi: 10.1002/ajmg.a.32154.

Abstract

We report on the case of a 44-year-old man affected with the Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) presenting with ischemic stroke due to a dissection of the right internal carotid. Molecular genetic analysis revealed the p.Gly556Arg mutation in exon 8 of the gene encoding glypican 3 (GPC3). This is the second case of a GPC3 missense mutation to be reported. The only risk factor found in this patient was carotid redundancy, a deformation that is significantly associated with spontaneous carotid dissection. The natural history of SGBS in adults is poorly known, and this case raises the question of a possible vascular risk associated with the disease.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Base Sequence
  • Carotid Artery, Internal, Dissection / complications*
  • Carotid Artery, Internal, Dissection / genetics
  • Cleft Palate / complications
  • Cleft Palate / genetics
  • Cryptorchidism / complications
  • Cryptorchidism / genetics
  • DNA Mutational Analysis
  • Fetal Macrosomia / genetics
  • Glypicans / genetics
  • Humans
  • Male
  • Polydactyly / complications
  • Polydactyly / genetics
  • Syndrome

Substances

  • GPC3 protein, human
  • Glypicans