Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Stein, 1968, Brittle cornea. A familial trait associated with blue sclera, Am. J. Ophthalmol., 66, 67, 10.1016/0002-9394(68)91789-3 Hyams, 1969, Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder, Br. J. Ophthalmol., 53, 53, 10.1136/bjo.53.1.53 Gregoratos, 1971, Blue sclerae with keratoglobus and brittle cornea, Br. J. Ophthalmol., 55, 424, 10.1136/bjo.55.6.424 Ticho, 1980, Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome), Br. J. Ophthalmol., 64, 175, 10.1136/bjo.64.3.175 Steinhorst, 1988, Brittle cornea syndrome: A hereditary disease of connective tissue with spontaneous corneal perforation, Fortschr. Ophthalmol., 85, 659 Zlotogora, 1990, Syndrome of brittle cornea, blue sclera, and joint hyperextensibility, Am. J. Med. Genet., 36, 269, 10.1002/ajmg.1320360303 Tucker, 1959, Blue sclerotics syndrome simulating buphthaimos, Am. J. Ophthalmol., 47, 345, 10.1016/S0002-9394(14)76536-5 Arkin, 1964, Blue sclera with keratoglobus, Am. J. Ophthalmol., 58, 678, 10.1016/0002-9394(64)91389-3 Judisch, 1976, Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity, Arch. Ophthalmol., 94, 1489, 10.1001/archopht.1976.03910040323006 Al-Hussain, 2004, Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature, Am. J. Med. Genet. A., 124, 28, 10.1002/ajmg.a.20326 Royce, 1990, Brittle cornea syndrome: a heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation, Eur. J. Pediatr., 149, 465, 10.1007/BF01959396 Abu, 2006, Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24, Invest. Ophthalmol. Vis. Sci., 47, 5283, 10.1167/iovs.06-0206 Gamsjaeger, 2007, Sticky fingers: zinc-fingers as protein-recognition motifs, Trends Biochem. Sci., 32, 63, 10.1016/j.tibs.2006.12.007 Ihanamäki, 2004, Collagens and collagen-related matrix components in the human and mouse eye, Prog. Retin. Eye Res., 23, 403, 10.1016/j.preteyeres.2004.04.002 Segev, 2006, Structural abnormalities of the cornea and lid resulting from collagen V mutations, Invest. Ophthalmol. Vis. Sci., 47, 565, 10.1167/iovs.05-0771 Klintworth, 2003, The molecular genetics of the corneal dystrophies – current status, Front. Biosci., 8, d687, 10.2741/1018 Gottsch, 2005, Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy, Invest. Ophthalmol. Vis. Sci., 46, 1934, 10.1167/iovs.04-0937 Biswas, 2001, Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy, Hum. Mol. Genet., 10, 2415, 10.1093/hmg/10.21.2415 Brancati, 2004, A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13, J. Med. Genet., 41, 188, 10.1136/jmg.2003.012872 Tyynismaa, 2002, A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families, Invest. Ophthalmol. Vis. Sci., 43, 3160 Martin, 2007, Osteogenesis imperfecta:epidemiology and pathophysiology, Curr. Osteoporos. Rep., 5, 91, 10.1007/s11914-007-0023-z