期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 4, 页码 464-467出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.32154
关键词
Simpson-Golabi-Behmel syndrome; carotid dissection; ischemic stroke; vascular risk
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 vas 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. (c) 2008 Wiley-Liss, Inc.
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