Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
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.
Li
Anren
A
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA.
Jiao
Xiaodong
X
Munier
Francis L
FL
Schorderet
Daniel F
DF
Yao
Wenliang
W
Iwata
Fumino
F
Hayakawa
Mutsuko
M
Kanai
Atsushi
A
Shy Chen
Muh
M
Alan Lewis
Richard
R
Heckenlively
John
J
Weleber
Richard G
RG
Traboulsi
Elias I
EI
Zhang
Qingjiong
Q
Xiao
Xueshan
X
Kaiser-Kupfer
Muriel
M
Sergeev
Yuri V
YV
Hejtmancik
J Fielding
JF
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
D005227:Fatty Acids; D005819:Genetic Markers; D013256:Steroids; D003577:Cytochrome P-450 Enzyme System