The genetics of Fraser syndrome and the blebs mouse mutants

Ian Macleod Smyth, Peter J Scambler

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66 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)R269 - R274
Number of pages6
JournalHuman Molecular Genetics
Volume14
Issue number2
Publication statusPublished - 2005

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