title: Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin.
abstract: OBJECTIVE
  To present new molecular genetic data on primary congenital glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene.
  
  
  METHODS
  All diagnoses were made by slit-lamp biomicroscopy, gonioscopy, cornea and optic disk measurements, ultrasound-biometry, and automated static threshold perimetry where possible. Mutation screening was performed by direct sequence analysis of DNA extracted from peripheral blood of the patients and their relatives.
  
  
  RESULTS
  For the isolated case, a child of 4 years, a homozygous nucleotide deletion within a tetrad of cytosines (nt622-625, 622delC) was found leading to a predicted nonsense codon 93 truncating the protein by 450 amino acids. For the familial cases, the 3 affected members showed a homozygous mutation 1,546-1,555dupTCATGCCACC for which 9 healthy relatives proved to be heterozygous. The phenotypic expression of these 3 patients varied widely.
  
  
  CONCLUSIONS
  Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
authors.affiliation: Escuela de Biología, Universidad de Costa Rica.
authors.forename: Gabriela Chavarria
authors.initials: GC
authors.lastname: Soley
authors.forename: Kristin A
authors.initials: KA
authors.lastname: Bosse
authors.forename: David
authors.initials: D
authors.lastname: Flikier
authors.forename: Paul
authors.initials: P
authors.lastname: Flikier
authors.forename: Jorge
authors.initials: J
authors.lastname: Azofeifa
authors.forename: Christian Y
authors.initials: CY
authors.lastname: Mardin
authors.forename: Andre
authors.initials: A
authors.lastname: Reis
authors.forename: Karin G
authors.initials: KG
authors.lastname: Michels-Rautenstrauss
authors.forename: Bernd W
authors.initials: BW
authors.lastname: Rautenstrauss
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D003241:Consanguinity; D003364:Costa Rica / Q000453:epidemiology; D065633:Cytochrome P-450 CYP1B1; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D005901:Glaucoma / Q000151:congenital* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014421:Turkey / Q000453:epidemiology; D014794:Visual Fields
chemical_list: D018389:Codon, Nonsense; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1