Novel mutations in the FREAC3 gene for diagnosis and prognosis of glaucoma and anterior segment hypoplasia

摘要

The invention features novel mutations in the FREAC3 gene. Our discovery provides methods for early diagnosis of glaucoma, other disorders of the eye, and heart defects. Also provided are cells having at least one deficient FREAC3 gene. Such cells may be used to detect therapeutic compounds that mimic FREAC3, are agonists of FREAC3, or otherwise modulate the level of FREAC3 biological activity.