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

American Journal of Medical Genetics. Part a
Isabelle Pénisson-BesnierDominique Bonneau

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.

References

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Citations

Apr 23, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Edouard CottereauAnnick Toutain
Jan 9, 2013·Cell Biochemistry and Function·P P DwivediB C Powell
Jan 15, 2014·Matrix Biology : Journal of the International Society for Matrix Biology·Jorge Filmus, Mariana Capurro
Sep 23, 2014·Orphanet Journal of Rare Diseases·Jair TenorioPablo Lapunzina
Jun 18, 2019·Current Pharmaceutical Biotechnology·Mohammad J HosenPaul Coucke
Dec 29, 2018·American Journal of Medical Genetics. Part a·Elżbieta Andrysiak-MamosAnhelli Syrenicz

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