MRL Home

Cause of rare growth order discovered

An international collaboration involving Drs Rob Semple and Ines Barroso at the University of Cambridge Metabolic Research Laboratories, and scientists at the Sanger Institute and the Babraham Institute in the UK and the National Institute for Health in the US has discovered that unrestrained and sometimes massive fatty ‘overgrowth’ that causes some parts of the body to grow excessively is caused by mutations in the phosphatidylinositol-3-kinase (PI3K)/AKT signalling pathway.



The study is published in the following article:


Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

Marjorie J Lindhurst, Victoria E R Parker, Felicity Payne, Julie C Sapp, Simon Rudge, Julie Harris, Alison M Witkowski, Qifeng Zhang, Matthijs P Groeneveld, Carol E Scott, Allan Daly, Susan M Huson, Laura L Tosi, Michael L Cunningham, Thomas N Darling, Joseph Geer, Zoran Gucev, V Reid Sutton, Christos Tziotzios, Adrian K Dixon, Timothy Helliwell, Stephen O'Rahilly, David B Savage, Michael J O Wakelam, InĂªs Barroso, Leslie G Biesecker and Robert K Semple

Nature Genetics (2012) DOI:10.1038/ng.2332