title: Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.
abstract: OBJECTIVE
  To investigate the roles of CYP1B1 and MYOC mutations and characterize the phenotype of primary congenital glaucoma in Israeli patients from 3 different ethnic backgrounds.
  
  
  METHODS
  Interventional case series.
  
  
  METHODS
  This institutional study included 34 Israeli primary congenital glaucoma patients (26 families) comprising 9 Jews (9 families), 17 non-Bedouin Muslim Arabs (10 families), and 8 Druze (7 families). The patients and their relatives (n = 99) were screened for CYP1B1 and MYOC mutations.
  
  
  RESULTS
  Mutations in the CYP1B1 gene were detected in 12 of 26 families (46%) with primary congenital glaucoma (5 Muslim Arab, 5 Druze, and 2 Jewish). The Jewish families had compound heterozygous mutations and digenic mutations (ie, an Ashkenazi family had mutations in the CYP1B1 gene [Arg368His, R48G, A119S, and L432V haplotypes] and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene [1908delA, Sephardic] with a second missense mutation on the MYOC gene [R76K, Ashkenazi]). The Muslim Arabs and Druze tended to have a more severe phenotype than that of the Jews.
  
  
  CONCLUSIONS
  The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity. The rarity of mutations in the CYP1B1 gene among Ashkenazi primary congenital glaucoma patients indicates that a different locus may be involved in the phenotype.
authors.affiliation: Department of Ophthalmology, Carmel Medical Center, Haifa, Israel. drgo@netvision.net.il
authors.forename: Orna
authors.initials: O
authors.lastname: Geyer
authors.forename: Alvit
authors.initials: A
authors.lastname: Wolf
authors.forename: Elia
authors.initials: E
authors.lastname: Levinger
authors.forename: Amalia
authors.initials: A
authors.lastname: Harari-Shacham
authors.forename: David S
authors.initials: DS
authors.lastname: Walton
authors.forename: Chen
authors.initials: C
authors.lastname: Shochat
authors.forename: Sigal
authors.initials: S
authors.lastname: Korem
authors.forename: Dani
authors.initials: D
authors.lastname: Bercovich
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D006871:Hydrophthalmos / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007557:Israel; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human