title: Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
abstract: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested. The CYP4V2 gene, transcribed from 11 exons spanning 19 kb, is expressed widely. Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD.
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA.
authors.forename: Anren
authors.initials: A
authors.lastname: Li
authors.forename: Xiaodong
authors.initials: X
authors.lastname: Jiao
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: Wenliang
authors.initials: W
authors.lastname: Yao
authors.forename: Fumino
authors.initials: F
authors.lastname: Iwata
authors.forename: Mutsuko
authors.initials: M
authors.lastname: Hayakawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
authors.forename: Muh
authors.initials: M
authors.lastname: Shy Chen
authors.forename: Richard
authors.initials: R
authors.lastname: Alan Lewis
authors.forename: John
authors.initials: J
authors.lastname: Heckenlively
authors.forename: Richard G
authors.initials: RG
authors.lastname: Weleber
authors.forename: Elias I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Qingjiong
authors.initials: Q
authors.lastname: Zhang
authors.forename: Xueshan
authors.initials: X
authors.lastname: Xiao
authors.forename: Muriel
authors.initials: M
authors.lastname: Kaiser-Kupfer
authors.forename: Yuri V
authors.initials: YV
authors.lastname: Sergeev
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
mesh_terms: D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011487:Protein Conformation; D012326:RNA Splicing; D012162:Retinal Degeneration / Q000235:genetics* / Q000378:metabolism; D013256:Steroids / Q000378:metabolism
chemical_list: D005227:Fatty Acids; D005819:Genetic Markers; D013256:Steroids; D003577:Cytochrome P-450 Enzyme System