Show Summary Details
Page of

Fraser Syndrome and Related Conditions 

Fraser Syndrome and Related Conditions
Fraser Syndrome and Related Conditions

Peter J. Scambler

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 07 March 2021

Fraser syndrome (FS) is a recessive multisystem disorder characterized by cryptophthalmos, cutaneous syndactyly, renal defects, and a range of other developmental abnormalities. More than 17 years ago the family of four mapped mouse “blebs” mutants were proposed as models of this disorder, given their striking phenotypic overlaps. The blebs mutants all demonstrate intrauterine blistering. Three FS and four bleb genes have been cloned revealing a family of three large extracellular matrix (ECM) proteins (FRAS1, FREM1 and FREM2) and an intracellular adapter protein [glutamate receptor interacting protein (GRIP1)] which are required for normal epidermal adhesion early in development. FRAS1, FREM2, and GRIP1 are the human FS genes, Fras1, Frem1, Frem2, and Grip1 are mutated in blebs mice (FREM1 mutations have been associated with bifid nose, anorectal and renal malformations). FRAS1 and FREM2 require GRIP1 for presentation at the apical surface of keratinocytes, whereas FREM1 is a protein secreted from the dermal cell layer. The FRAS/FREM/GRIP proteins have also been shown to play a crucial role in the development of the kidney and maintenance of its subsequent structural integrity.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.