Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.

摘要: X-linked Familial Exudative Vitreoretinopathy (XLFEVR) is a hereditary eye disorder that affects both the retina and vitreous body. It characterized by an abnormal vascularization of peripheral retina. has been previously shown linkage candidate gene analysis XLFEVR Norrie disease are allelic. In this report we describe four novel mutations (R41K, H42R, K58N, Y120C) in associated with one sporadic cases FEVR. One mutation (H42R) was found to be segregating three generations (X-linked family), others sporadic. These sequence alterations changed encoded amino acids protein were not 17 unaffected family members or 36 randomly selected normal individuals. This study provides additional evidence same can result FEVR disease. also demonstrates it may beneficial for clinical diagnosis screen cases. Hum Mutat 9:396–401, 1997. © 1997 Wiley-Liss, Inc.