ArticleAmerican journal of human genetics2012
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 71 citations in OpenAlex.
- Insight into genes responsible for cornea plana, megalocornea, keratoconus and brittle cornea syndrome.Molecular vision · 2026Article
- The emergence ofFrontiers in cell and developmental biology · 2025Article
- Proteomic Analysis of Aqueous Humor in Central Retinal Artery Occlusion: Unveiling Novel Insights Into Disease Pathophysiology.Translational vision science & technology · 2024Article
- Absence of chordin-like 1 aids motor recovery in a mouse model of stroke.Experimental neurology · 2023Article
- Mechanisms of Regulation of theGenes · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Conserved gene signatures shared amongFrontiers in molecular biosciences · 2023Article
- Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature ReviewJournal of clinical research in pediatric endocrinology · 2022Article
- Review
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Control of complex behavior by astrocytes and microglia.Neuroscience and biobehavioral reviews · 2022Review
- Disrupted myelination network in the cingulate cortex of Parkinson's disease.IET systems biology · 2022Article
- Article
- Chordin-like 2 influences the differentiation fate of retinal pigment epithelium cells by dynamically regulating BMP pathway.International journal of ophthalmology · 2022Article
- Chordin-Like 1 Regulates Epithelial-to-Mesenchymal Transition and MetastasisFrontiers in oncology · 2022Article
- Calculating intraocular lens power in anterior megalophthalmos: A case report.Frontiers in medicine · 2022Article
- BMP antagonists in tissue development and disease.Matrix biology plus · 2021Review
- Functional and structural basis of extreme conservation in vertebrate 5' untranslated regions.Nature genetics · 2021Article
- Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.Nature communications · 2021Article
- Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 7 institutions in 4 countries.
Funding
Abstract
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth and later onset of mosaic corneal degeneration (shagreen), arcus juvenilis, and presenile cataracts. We identified copy-number variation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) on Xq23 as the cause of the condition in seven MGC1 families. CHRDL1 encodes ventroptin, a bone morphogenic protein antagonist with a proposed role in specification of topographic retinotectal projections. Electrophysiological evaluation revealed mild generalized cone system dysfunction and, in one patient, an interhemispheric asymmetry in visual evoked potentials. We show that CHRDL1 is expressed in the developing human cornea and anterior segment in addition to the retina. We explored the impact of loss of ventroptin function on brain function and morphology in vivo. CHRDL1 is differentially expressed in the human fetal brain, and there is high expression in cerebellum and neocortex. We show that MGC1 patients have a superior cognitive ability despite a striking focal loss of myelination of white matter. Our findings reveal an unexpected requirement for ventroptin during anterior segment development and the consequences of a lack of function in the retina and brain.
Indexed as
Identifiers
What 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.