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Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085.

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

Author information

1
Cardiovascular and Cell Sciences Institute, St. George's University of London, Cranmer Terrace, London SW17 0RE, UK.
2
Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, Kings College London School of Medicine, Guy's Hospital, London SE1 9RY, UK.
3
Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
4
Department of Genetics, Stanford University, Stanford, California 94305, USA.
5
Department of Dermatology, St. George's Healthcare NHS Trust, London SW17 0QT, UK.
6
South West Thames Regional Genetics Unit, St. George's University of London, London SW17 0RE, UK.
7
Pathology Department, St. George's University of London, London SW17 0RE, UK.
8
Department of Haematological Medicine, King's College London School of Medicine, King's College Hospital, London SE5 9RS, UK.
9
Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, 75013 Paris, France.
10
West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, 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.

PMID:
26333996
PMCID:
PMC4568316
DOI:
10.1038/ncomms9085
[Indexed for MEDLINE]
Free PMC Article

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