TY - JOUR
T1 - Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2
AU - Li, Anren
AU - Jiao, Xiaodong
AU - Munier, Francis L.
AU - Schorderet, Daniel F.
AU - Yao, Wenliang
AU - Iwata, Fumino
AU - Hayakawa, Mutsuko
AU - Kanai, Atsushi
AU - Chen, Muh Shy
AU - Lewis, Richard Alan
AU - Heckenlively, John
AU - Weleber, Richard G.
AU - Traboulsi, Elias I.
AU - Zhang, Qingjiong
AU - Xiao, Xueshan
AU - Kaiser-Kupfer, Muriel
AU - Sergeev, Yuri V.
AU - Hejtmancik, J. Fielding
N1 - Funding Information:
We thank the subjects with BCD and their families, for their willing and continued participation in these studies. We also thank Dr. Ying Hu, National Cancer Institute Center for Bioinformatics, National Institutes of Health, for assistance with computer graphic design, and we acknowledge support from Swiss National Science Foundation grant #32-065250.01. R.A.L. is a Senior Scientific Investigator of Research to Prevent Blindness, New York. This work also was supported by a Grant in Aid for Scientific Research (B08457468) from the Ministry of Education, Science and Culture of Japan; by a Japanese Ministry of Health and Welfare grant for the study of chorioretinal degeneration; and, in part, by the Foundation Fighting Blindness and Research to Prevent Blindness.
PY - 2004/5
Y1 - 2004/5
N2 - 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.
AB - 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.
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U2 - 10.1086/383228
DO - 10.1086/383228
M3 - Article
C2 - 15042513
AN - SCOPUS:2342537802
SN - 0002-9297
VL - 74
SP - 817
EP - 826
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 5
ER -