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Letter

Nature Genetics 34, 203–208 (1 June 2003) | doi:10.1038/ng1142

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Lesley McGregor , Ville Makela , Susan M Darling , Sofia Vrontou , Georges Chalepakis , Catherine Roberts , Nicola Smart , Paul Rutland , Natalie Prescott , Jason Hopkins , Elizabeth Bentley , Alison Shaw , Emma Roberts , Robert Mueller , Shalini Jadeja , Nicole Philip , John Nelson , Christine Francannet , Antonio Perez-Aytes , Andre Megarbane , Bronwyn Kerr , Brandon Wainwright , Adrian S Woolf , Robin M Winter & Peter J Scambler

Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects. Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, although the condition is genetically heterogeneous.