Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

Détails

ID Serval
serval:BIB_A485EF5B7AAC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
Périodique
American Journal of Human Genetics
Auteur⸱e⸱s
Li  A., Jiao  X., Munier  F. L., Schorderet  D. F., Yao  W., Iwata  F., Hayakawa  M., Kanai  A., Shy Chen  M., Alan Lewis  R., Heckenlively  J., Weleber  R. G., Traboulsi  E. I., Zhang  Q., Xiao  X., Kaiser-Kupfer  M., Sergeev  Y. V., Hejtmancik  J. F.
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
05/2004
Volume
74
Numéro
5
Pages
817-26
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: May
Résumé
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.
Mots-clé
Chromosomes, Human, Pair 4/genetics Corneal Dystrophies, Hereditary/*genetics/metabolism Cytochrome P-450 Enzyme System/*genetics/metabolism Fatty Acids/metabolism Female Genes, Recessive/genetics Genetic Markers/genetics Haplotypes/genetics Humans Linkage (Genetics)/*genetics Male Microsatellite Repeats Mutation/*genetics Pedigree Protein Conformation RNA Splicing Retinal Degeneration/*genetics/metabolism Steroids/metabolism
Pubmed
Web of science
Open Access
Oui
Création de la notice
28/01/2008 13:58
Dernière modification de la notice
20/08/2019 16:09
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