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A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
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    Phenotypic non-penetrance in Milroy-like disease associated with a mutation in the vascular endothelial growth factor-C gene (VEGFC)
    • Henri J. Boersma, MD, PhD candidate Department of Dermatology, Maastricht University Medical Centre, Maastricht, Netherlands
    • Other Contributors:
      • Martijn V. Heitink, Dermatologist
      • Jiddeke M. van de Kamp, Clinical Geneticist
      • Michel van Geel, Clinical Laboratory Geneticist

    Phenotypic non-penetrance in Milroy-like disease associated with a mutation in the vascular endothelial growth factor-C gene (VEGFC)

    Boersma, H.J.1, M.V. Heitink2, J.M. van de Kamp3, van Geel, M 1,4

    1 Department of Dermatology, Maastricht University Medical Centre+, Maastricht, The Netherlands
    2 Department of Dermatology, VieCuri, Venlo, The Netherlands
    3 Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands
    4 Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands

    With great interest, we read the article by Balboa-Beltran et al [1], where they presented a three-generation family with a phenotype of typical Milroy disease without mutations in FLT4 but instead in VEGFC. Milroy disease is an autosomal dominant, congenital form of primary lymphoedema with reduced penetrance. In approximately 70% of Milroy disease patients, mutations in FLT4 are identified [2]. Connell et al. presented research wherein FLT4 pathogenic variants were detected in 75% of clearly affected patients having a positive family history and in 68% of typical Milroy patients but without a family history [3], suggesting that other genes may be involved. Balboa-Beltran et al [1], detected a novel nonsense mutation (p.(Arg210*)) in VEGFC by exome sequencing causing Milroy-like disease. They found that all carriers of this VEGFC mutation exhibited the clinical diagnostic criteria of Milroy disease, inclu...

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    Conflict of Interest:
    None declared.