ArticleAmerican journal of human genetics2009
Null mutations in LTBP2 cause primary congenital glaucoma.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 7 of them syntheses that pooled it.
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Who cites it
169 citing papers in PubMed, 7 syntheses or guidelines pooled it, 322 citations in OpenAlex.
- Pooled it
- Pooled it
- Surgical interventions for primary congenital glaucoma.The Cochrane database of systematic reviews · 2020Pooled it
- Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.Nature genetics · 2020Pooled it
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.Nature genetics · 2018Pooled it
- Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.PLoS genetics · 2012Pooled it
- A genome-wide association study of optic disc parameters.PLoS genetics · 2010Pooled it
- TNFα-dependent modulation of WT1-MMP9 regulatory axis links developmental and inflammatory pathways in glaucoma.iScience · 2026Article
- Latent transforming growth factor binding protein-2 (LTBP2), an IPF biomarker of clinical decline, promotes TGF-beta signaling and lung fibrosis in mice.American journal of respiratory cell and molecular biology · 2026Article
- Comparison of Rebound and Applanation Tonometry in Eyes With Focal Corneal Edema.Veterinary ophthalmology · 2026Article
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Article
- TGF-β2/OPTN/FOXC1/BBA advances · 2026Article
- Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.Human mutation · 2026Article
- The Effects of SNPs in theVeterinary medicine international · 2026Article
- Effects of 0.024% latanoprostene bunod on intraocular pressure and pupil diameter in normal cats and cats with congenital glaucoma.Veterinary ophthalmology · 2026Article
- Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.bioRxiv : the preprint server for biology · 2025Article
- Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.Scientific reports · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Article
109 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 11 institutions in 6 countries.
Funding
Abstract
Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by high intraocular pressure (IOP), usually within the first year of life, which potentially could lead to optic nerve damage, globe enlargement, and permanent loss of vision. To date, PCG has been linked to three loci: 2p21 (GLC3A), for which the responsible gene is CYP1B1, and 1p36 (GLC3B) and 14q24 (GLC3C), for which the genes remain to be identified. Here we report that null mutations in LTBP2 cause PCG in four consanguineous families from Pakistan and in patients of Gypsy ethnicity. LTBP2 maps to chromosome 14q24.3 but is around 1.3 Mb proximal to the documented GLC3C locus. Therefore, it remains to be determined whether LTBP2 is the GLC3C gene or whether a second adjacent gene is also implicated in PCG. LTBP2 is the largest member of the latent transforming growth factor (TGF)-beta binding protein family, which are extracellular matrix proteins with multidomain structure. It has homology to fibrillins and may have roles in cell adhesion and as a structural component of microfibrils. We confirmed localization of LTBP2 in the anterior segment of the eye, at the ciliary body, and particularly the ciliary process. These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone.
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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.