ArticleMolecular vision2013
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 369 citations in OpenAlex.
- Pooled it
- Antibacterial, Antioxidant, and Anti-Inflammatory Activities of Thai Stingless Bee Propolis Extracts.Biology · 2026Article
- Rare eye diseases in India: A concise review of genes and genetics.Indian journal of ophthalmology · 2022Review
- Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.Frontiers in genetics · 2021Article
- Research progress on human genes involved in the pathogenesis of glaucoma (Review).Molecular medicine reports · 2018Review
- Primary congenital and developmental glaucomas.Human molecular genetics · 2017Review
- HBx-related long non-coding RNA MALAT1 promotes cell metastasis via up-regulating LTBP3 in hepatocellular carcinoma.American journal of cancer research · 2017Article
- Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.PloS one · 2016Article
- Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.Molecular vision · 2016Article
- Article
- Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.Human molecular genetics · 2014Article
- Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.Journal of current glaucoma practiceReview
- Common Molecular Challenges in Glaucoma.Journal of ophthalmic & vision researchArticle
- Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.Journal of ophthalmic & vision researchReview
- Investigation ofMiddle East African journal of ophthalmologyArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary 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.
methodsAfter 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.
resultsWe 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.
conclusionsLTBP2 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.
Indexed as
Identifiers
23378721PMC3559091W2032905041What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.