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Human Molecular Genetics 2005 14(Review Issue 2):R269-R274; doi:10.1093/hmg/ddi262
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The genetics of Fraser syndrome and the blebs mouse mutants

Ian Smyth1,2 and Peter Scambler2,*

1Cancer Research UK, London Research Institute, 44 Lincoln's Inn Fields, London WC2A 3PX, UK and 2Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK

* To whom correspondence should be addressed. Email: p.scambler{at}ich.ucl.ac.uk

Received June 16, 2005; Accepted July 1, 2005

Fraser syndrome is a recessive multisystem disorder characterized by embryonic epidermal blistering, cryptophthalmos, syndactyly, renal defects and a range of other developmental abnormalities. More than 17 years ago, the family of four mapped mouse blebs mutants was proposed as models of this disorder, given their striking phenotypic overlaps. In the last few years, these loci have been cloned, uncovering a family of three large extracellular matrix proteins and an intracellular adapter protein which are required for normal epidermal adhesion early in development. The proteins have also been shown to play a crucial role in the development and homeostasis of the kidney. We review the cloning and characterization of these genes and explore the consequences of their loss.


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