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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Open accessAbstract
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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Metadata
- Authors
- Fotiou, E., Martin-Almedina, S., Simpson, M. A., Lin, S., Gordon, K., Brice, G., Atton, G., Jeffery, I., Rees, D. C., Mignot, C., Vogt, J., Homfray, T., Snyder, M. P., Rockson, S. G., Jeffery, S., Mortimer, P. S., Mansour, S., & Ostergaard, P.
- Venue
- Nature Communications
- Published
- 2015-09-03
- Volume
- 6
- Issue
- 1
- Pages
- 8085-8085
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2113018006
- Cited by
- 327
- References
- 2
- FWCI
- 9.10
- Type
- journal article
- Language
- en
- Open access
- gold
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