DDX58 MUTANT GENE AS CAUSATIVE GENE FOR CONGENITAL GLAUCOMA, HEREDITARY VASCULAR CALCIFICATION OR SKELETAL ABNORMALITIES, AND METHOD AND COMPOSITION FOR DIAGNOSING DISEASES USING SAME

摘要

The present invention establishes a novel missense mutation identified from DDX58 gene as a gene mutation responsible for congenital glaucoma, hereditary vascular calcification, or skeletal abnormalities, and provides the DDX58 mutant gene and proteins coded from the same as diagnostic markers for congenital glaucoma, hereditary vascular calcification, or skeletal abnormalities. Also, provided are a composition, a kit, and a method for diagnosing congenital glaucoma, hereditary vascular calcification, or skeletal abnormalities using the DDX58 mutant gene and proteins. According to the present invention, an accurate and early diagnosis can be conducted through a simple gene test regarding congenital glaucoma, hereditary vascular calcification, or skeletal abnormalities, thereby enabling targeted therapies based on accurate causes of disease according to accurate diagnosing.