Fraser Syndrome and Related Conditions
- DOI:
- 10.1093/med/9780199934522.003.0204
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.
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