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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

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  • Elisavet Fotiou

    (Cardiovascular and Cell Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)

  • Silvia Martin-Almedina

    (Cardiovascular and Cell Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)

  • Michael A. Simpson

    (Kings College London School of Medicine, Guy's Hospital)

  • Shin Lin

    (Stanford University
    Stanford University)

  • Kristiana Gordon

    (St. George’s Healthcare NHS Trust)

  • Glen Brice

    (South West Thames Regional Genetics Unit, St. George's University of London)

  • Giles Atton

    (South West Thames Regional Genetics Unit, St. George's University of London)

  • Iona Jeffery

    (St. George's University of London)

  • David C. Rees

    (King’s College London School of Medicine, King’s College Hospital)

  • Cyril Mignot

    (APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares)

  • Julie Vogt

    (West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital)

  • Tessa Homfray

    (South West Thames Regional Genetics Unit, St. George's University of London)

  • Michael P. Snyder

    (Stanford University)

  • Stanley G. Rockson

    (Stanford University)

  • Steve Jeffery

    (Cardiovascular and Cell Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)

  • Peter S. Mortimer

    (Cardiovascular and Cell Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)

  • Sahar Mansour

    (South West Thames Regional Genetics Unit, St. George's University of London)

  • Pia Ostergaard

    (Cardiovascular and Cell Sciences Institute, St. George’s University of London, Cranmer Terrace, London SW17 0RE, UK)

Abstract

Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures.

Suggested Citation

  • Elisavet Fotiou & Silvia Martin-Almedina & Michael A. Simpson & Shin Lin & Kristiana Gordon & Glen Brice & Giles Atton & Iona Jeffery & David C. Rees & Cyril Mignot & Julie Vogt & Tessa Homfray & Mich, 2015. "Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis," Nature Communications, Nature, vol. 6(1), pages 1-6, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9085
    DOI: 10.1038/ncomms9085
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    Cited by:

    1. Sine Yaganoglu & Konstantinos Kalyviotis & Christina Vagena-Pantoula & Dörthe Jülich & Benjamin M. Gaub & Maaike Welling & Tatiana Lopes & Dariusz Lachowski & See Swee Tang & Armando Del Rio Hernandez, 2023. "Highly specific and non-invasive imaging of Piezo1-dependent activity across scales using GenEPi," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    2. Nathalia G. Amado & Elena D. Nosyreva & David Thompson & Thomas J. Egeland & Osita W. Ogujiofor & Michelle Yang & Alexandria N. Fusco & Niccolo Passoni & Jeremy Mathews & Brandi Cantarel & Linda A. Ba, 2024. "PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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