Tang Sa, Hoshida Hiroshi, Kamisago Mitsuhiro, Yagi Hisato, Momma Kazuo, Matsuoka Rumiko
International Research and Educational Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Am J Med Genet A. 2009 Oct;149A(10):2216-9. doi: 10.1002/ajmg.a.32735.
Here we report on a patient with multiple lentigines, hypertelorism, short stature, arachnodactyly, scoliosis, dissecting aneurysm, hypertrophic cardiomyopathy and developmental delay, and a family history of Marfan syndrome. The patient is affected with both Marfan and LEOPARD syndromes. Mutational screening of the FBN1 gene showed a c.1464T>A (p.C488X) mutation and screening of the PTPN11 gene showed a c.836A>G (p.Y279C) mutation. We conclude that each mutation contributed independently to individual features in the ocular and cardiovascular systems, although short stature was more significantly influenced by the p.Y279C change in PTPN11 rather than the mutation in FBN1. To our knowledge, this is the first report of mutations in both FBN1 and PTPN11 with combined phenotypes of Marfan and LEOPARD syndromes.
在此，我们报告一例患有多发性雀斑样痣、眼距增宽、身材矮小、蜘蛛指、脊柱侧凸、夹层动脉瘤、肥厚型心肌病和发育迟缓的患者，其家族有马凡综合征病史。该患者同时患有马凡综合征和豹皮综合征。对FBN1基因进行突变筛查发现一个c.1464T>A（p.C488X）突变，对PTPN11基因进行筛查发现一个c.836A>G（p.Y279C）突变。我们得出结论，尽管身材矮小受PTPN11基因的p.Y279C变化影响比FBN1基因突变更显著，但每个突变都独立地对眼和心血管系统的个体特征产生影响。据我们所知，这是首次报道FBN1和PTPN11基因均发生突变且具有马凡综合征和豹皮综合征联合表型的病例。
