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

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, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour and Pia Ostergaard ()
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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
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

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms9085

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