Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Lymphoedema is swelling of parts of the body due to a failure of the lymph vessels. The lymph system takes up fluid from the tissues, and transports cells that fight against infection round the body.

This paper describes the identification of a gene which can cause lymphoedema. A newly developed technique known as whole exome sequencing was used to find this gene.  The gene, called GJC2, makes a protein that is part of cell junctions. It opens an entirely new area to look for genes that might cause this disease. It has also been identified independently by a research group in the USA, confirming it does cause lymphoedema. 

It is hoped that using this new technique will rapidly lead to the discovery of more genes which cause lymphoedema. (Pia Ostergaard, Michael A Simpson, Glen Brice, Sahar Mansour, Fiona C Connell, Alexandros Onoufriadis, Anne H Child, Jae Hwang, Kamini Kalidas, Peter S Mortimer, Richard Trembath, Steve Jeffery, http://jmg.bmj.com/content/early/2011/01/24/jmg.2010.085563?papetoc)

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