title: Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
abstract: OBJECTIVE
  To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene.
  
  
  METHODS
  All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible. Direct sequence analysis was performed on DNA extracted from peripheral blood from the patients and their parents.
  
  
  RESULTS
  For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids. For patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found. For patient 3, a 34-year-old man, two novel heterozygous missense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found.
  
  
  CONCLUSIONS
  Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
authors.affiliation: Institute of Human Genetics, Erlangen, Germany.
authors.forename: K G
authors.initials: KG
authors.lastname: Michels-Rautenstrauss
authors.forename: C Y
authors.initials: CY
authors.lastname: Mardin
authors.forename: M
authors.initials: M
authors.lastname: Zenker
authors.forename: N
authors.initials: N
authors.lastname: Jordan
authors.forename: G C
authors.initials: GC
authors.lastname: Gusek-Schneider
authors.forename: B W
authors.initials: BW
authors.lastname: Rautenstrauss
mesh_terms: D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1