Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Viktor Lukacs, Jayanti Mathur, Rong Mao, Pinar Bayrak-Toydemir, Melinda Procter, Stuart M. Cahalan, Helen J. Kim, Michael Bandell, Nicola Longo, Ronald W. Day, David A. Stevenson, Ardem Patapoutian, Bryan L. Krock

ABSTRACT

Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema. More... »

PAGES

8329

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ncomms9329

DOI

http://dx.doi.org/10.1038/ncomms9329

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027046386

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26387913


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