Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes

Authors

  • Sa Tang,

    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
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  • Hiroshi Hoshida,

    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
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  • Mitsuhiro Kamisago,

    1. Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan
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  • Hisato Yagi,

    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
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  • Kazuo Momma,

    1. Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan
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  • Rumiko Matsuoka

    Corresponding author
    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
    2. Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan
    3. Division of Genomic Medicine, Institute of Advanced Biomedical Engineering and Science, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan
    • International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 kawada-cho, shinjuku-ku, Tokyo 162-8666, Japan.
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  • How to Cite this Article: Tang S, Hoshida H, Kamisago M, Yagi H, Momma K, Matsuoka R. 2009. Phenotype–genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes. Am J Med Genet Part A 149A:2216–2219.

  • Sa Tang and Hiroshi Hoshida contributed equally to this work. Sa Tang is now affiliated with the School of Environmental and Life Sciences, University of Newcastle, Ourimbah, Australia.

Abstract

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. © 2009 Wiley-Liss, Inc.

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