title: LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.
abstract: OBJECTIVE
  Primary congenital glaucoma (isolated trabeculodysgensis, PCG) generally presents between birth and 3 years of age. Recently, mutations in Latent Transforming Growth Factor (TGF)-beta Binding Protein 2 (LTBP2) have been reported in several families that were diagnosed with PCG, who actually had a more complex ocular phenotype with ectopia lentis and Marfanoid features. We screened this gene for mutations in the original Turkish GLC3C-linked PCG family and in a group of CYP1B1-negative British PCG cases and their matched normal control subjects.
  
  
  METHODS
  The 36-coding exons of the LTBP2 gene were sequenced in 94 familial or sporadic CYP1B1-negative PCG cases and 96 matched normal control subjects.
  
  
  RESULTS
  No disease-causing mutations were identified in the original GLC3C-linked family. Screening of LTBP2 in 94 PCG and 96 control subjects identified three novel synonymous variations (L429L, P680P, S1031S) in 12 PCG and seven control subjects. A novel heterozygous missense mutation (R538W) was also identified in 1 of 90 PCG cases that is unlikely to be disease-causative.
  
  
  CONCLUSIONS
  LTBP2 mutations were not found in the Turkish GLC3C-linked PCG family or in 94 British CYP1B1-negative PCG cases. Our data suggest that LTBP2 mutations are not a significant cause for isolated trabeculodysgenesis.
authors.affiliation: Molecular Ophthalmic Genetics Laboratory, University of Connecticut Health Center, Farmington, CT 06030, USA.
authors.forename: Roshanak
authors.initials: R
authors.lastname: Sharafieh
authors.forename: Anne H
authors.initials: AH
authors.lastname: Child
authors.forename: Peng T
authors.initials: PT
authors.lastname: Khaw
authors.forename: Brian
authors.initials: B
authors.lastname: Fleck
authors.forename: Mansoor
authors.initials: M
authors.lastname: Sarfarazi
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D003241:Consanguinity; D065633:Cytochrome P-450 CYP1B1; D004252:DNA Mutational Analysis; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D006871:Hydrophthalmos / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007429:Intraocular Pressure; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: C509035:LTBP2 protein, human; D053779:Latent TGF-beta Binding Proteins; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1