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Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma

Kuldeep Mohanty1, Mukesh Tanwar, Rima Dada

  • 1Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

Molecular Vision
|February 5, 2013
PubMed

Insights

LTBP2 gene mutations do not cause primary congenital glaucoma (PCG) in North Indian patients. Further research is needed to explore other genetic factors contributing to PCG development.

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Research

Background:

  • Primary congenital glaucoma (PCG) is a severe, early-onset autosomal recessive eye disorder affecting the anterior eye segment.
  • Previous studies identified LTBP2 gene mutations in PCG patients from Pakistan and Iran.
  • The role of LTBP2 in North Indian PCG cases remained uninvestigated.

Purpose of the Study:

  • To investigate the mutation profile of the LTBP2 gene in North Indian patients diagnosed with primary congenital glaucoma.
  • To determine if LTBP2 gene mutations contribute to the pathogenesis of PCG in this specific population.

Main Methods:

  • Genomic DNA was extracted from 54 unrelated PCG patients and 50 controls.
  • Patients were screened for mutations in MYOC, CYP1B1, and FOXC1.
  • The LTBP2 gene was analyzed for mutations using PCR and direct sequencing.

Main Results:

  • A single intronic single nucleotide polymorphism (rs3742793) was identified in the LTBP2 gene in 18 PCG patients.
  • No pathogenic variants within the LTBP2 gene were found in the studied North Indian PCG cohort.
  • The identified polymorphism involved a cytosine to guanosine substitution at position g.75070493.

Conclusions:

  • LTBP2 gene mutations are not implicated in the cause of primary congenital glaucoma in this North Indian cohort.
  • The findings suggest that other genetic loci and genes should be screened in PCG cases negative or heterozygous for MYOC, CYP1B1, and FOXC1 mutations.
  • Further investigation is required to elucidate the genetic basis of congenital glaucoma in these patients.
Abstract

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