title: Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.
abstract: OBJECTIVE
  Primary congenital glaucoma (PCG), a severe form of glaucoma that presents early in life, is an autosomal recessive eye disorder that results from defects in anterior eye segment. Null mutations in LTBP2 were reported in patients with PCG in Pakistani and Iranian families. This study was aimed to identify the mutation profile of the LTBP2 gene in north Indian patients with PCG.
  
  
  METHODS
  After ethical clearance, 54 unrelated patients with PCG who were either negative or heterozygous for MYOC, CYP1B1, and FOXC1 mutations and 50 ethnically matched non-glaucomatous controls were recruited for the study. PCG diagnosis was established by the presence of buphthalmos in at least one affected eye and associated high intraocular pressure before the age of 3 years. LTBP2 was screened in genomic blood DNA for mutations, with PCR and direct sequencing of PCR amplified fragments.
  
  
  RESULTS
  We observed one intronic single nucleotide polymorphism (rs3742793) between exons 6 and 7 in the LTBP2 gene in 18 patients with PCG. This nucleotide change resulted in cytosine (C) being replaced by guanosine (G) at position g.75070493. No pathogenic variants were identified in the LTBP2 gene in our cohort of patients.
  
  
  CONCLUSIONS
  LTBP2 gene mutations are not involved in the pathogenesis of primary congenital glaucoma in our patients. Thus, it is important to screen other glaucoma-associated loci and genes for involvement in congenital glaucoma in cases that are either negative or heterozygous for MYOC, CYP1B1, and FOXC1 mutations to have better insight into the disease pathogenesis.
authors: Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
authors: Kuldeep
authors: K
authors: Mohanty
authors: Mukesh
authors: M
authors: Tanwar
authors: Rima
authors: R
authors: Dada
authors: Tanuj
authors: T
authors: Dada
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D005820:Genetic Testing; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D053779:Latent TGF-beta Binding Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D000099179:Myocilin
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D051858:Forkhead Transcription Factors; D006023:Glycoproteins; D053779:Latent TGF-beta Binding Proteins; D000099179:Myocilin; C112743:FOXC1 protein, human; C509035:LTBP2 protein, human; C585496:CYP1B1 protein, human
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