ArticleClinical genetics2020
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of a Novel CDH2 Gene Variant in an ACOGS Patient with Concurrent Respiratory Tract Infection: A Case Report.Pediatric health, medicine and therapeutics · 2026Article
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.International journal of molecular sciences · 2025Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- General Treatment and Ophthalmic Management of Peters' Anomaly.Journal of clinical medicine · 2024Review
- Morphogenetic theory of mental and cognitive disorders: the role of neurotrophic and guidance molecules.Frontiers in molecular neuroscience · 2024Review
- Article
- The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes.Physiological reviews · 2023Review
- MicroRNAs and Gene Regulatory Networks Related to Cleft Lip and Palate.International journal of molecular sciences · 2023Review
- Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases.Frontiers in neuroscience · 2022Review
- Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.Frontiers in medicine · 2022Article
- Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.Circulation. Genomic and precision medicine · 2021Article
- Ocular and brain imaging findings in Peters' anomaly: A case report and literature review.Radiology case reports · 2020Article
- A mutation inMolecular vision · 2020Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
Abstract
Peters anomaly (PA) is a congenital corneal opacity associated with corneo-lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular conditions identified a de novo splicing and three novel missense heterozygous CDH2 variants affecting the extracellular cadherin domains in four individuals with PA. Syndromic anomalies were seen in three individuals and included left-sided cardiac lesions, dysmorphic facial features, and decreasing height percentiles; brain magnetic resonance imaging identified agenesis of the corpus callosum and hypoplasia of the inferior cerebellar vermis. CDH2 encodes for N-cadherin, a transmembrane protein that mediates cell-cell adhesion in multiple tissues. Immunostaining in mouse embryonic eyes confirmed N-cadherin is present in the lens stalk at the time of separation from the future cornea and in the developing lens and corneal endothelium at later stages, supporting a possible role in PA. Previous studies in animal models have noted the importance of Cdh2/cdh2 in the development of the eye, heart, brain, and skeletal structures, also consistent with the patient features presented here. Examination of CDH2 in additional patients with PA is indicated to confirm this association.
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Registered trials
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