title: Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
abstract: The objective of this study was to investigate the distribution of mutations in the Cytochrome P450 1B1 gene (CYP1B1) in patients with primary congenital glaucoma (PCG) among different populations. All identifiable original studies on CYP1B1 gene mutations of patients with PCG were reviewed. Finally, DNA mutations within the CYP1B1 gene were identified in 542 patients with PCG according to 52 scientific articles and 147 distinct mutations were found. The 3987G>A (G61E) missense mutation is a founder mutation in Middle Eastern population, responsible for 45.52% of CYP1B1 mutations. In Gypsies, missense mutation 7996G>A (E387K) seems to be a founder mutation, accounting for 79.63% of CYP1B1 mutations. It seems that there is no founder mutation in Asian or Caucasian population, but also accumulates in some spots. Mutations 7927G>A (V364M), 7990C>T (L385F) and 8006G>A (R390H) are common in Asian population. In Caucasians, 7940G>A (R368H), 8037dup10, 8006G>A (R390H), 7901del13, 4340delG, 3987G>A (G61E), 7996G>A (E387K), 4490G>A (E229K) and 8005C>T/A (R390C/S) are common mutations. The findings suggest that ethnic differences and the geographical distribution of PCG may be associated with different CYP1B1 mutation patterns. Such information may be useful in developing strategies for reliable clinical genetic testing of patients with PCG and their families.
authors.affiliation: Department of Ophthalmology, West China Hospital, Sichuan University, 37 Guo Xue Rd, Chengdu 610041, Sichuan Province, China.
authors.forename: Ni
authors.initials: N
authors.lastname: Li
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhou
authors.forename: Liang
authors.initials: L
authors.lastname: Du
authors.forename: Maoling
authors.initials: M
authors.lastname: Wei
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Chen
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065633:Cytochrome P-450 CYP1B1; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D018703:Founder Effect; D005828:Genetics, Population; D006801:Humans; D006871:Hydrophthalmos / Q000235:genetics*; D009154:Mutation; D044469:Racial Groups / Q000235:genetics
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1