Deficiency in the individual murine Fras1/Frem genes gives rise to the bleb phenotype, which is equivalent to the human hereditary disorder Fraser syndrome, characterized by cryptophthalmos (hidden eyes), embryonic skin blistering, renal agenesis, and syndactyly.
We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in FRAS1 to increase the molecular genetic data in patients with Fraser syndrome and related conditions.
Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis.