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

E Fotiou, S Martin-Almedina, MA Simpson, S Lin… - Nature …, 2015 - nature.com
E Fotiou, S Martin-Almedina, MA Simpson, S Lin, K Gordon, G Brice, G Atton, I Jeffery…
Nature communications, 2015nature.com
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 …
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.
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