ArticleHuman mutation2013
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 45 citations in OpenAlex.
- Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.Brain pathology (Zurich, Switzerland) · 2026Article
- The blood-brain barrier: a help and a hindrance.Brain : a journal of neurology · 2025Review
- Article
- Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.Journal of human genetics · 2025Article
- Molecular pathogenesis of Alzheimer's disease onset in a mouse model: effects of cannabidiol treatment.Frontiers in neuroscience · 2025Article
- Fetal intracranial hemorrhage and infarct: Main sonographic and MRI characteristics: A review article.European journal of obstetrics & gynecology and reproductive biology: X · 2024Review
- JAM3: A prognostic biomarker for bladder cancer via epithelial-mesenchymal transition regulation.Biomolecules & biomedicine · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.Human genetics · 2024Article
- JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development.Investigative ophthalmology & visual science · 2023Article
- Blood-Brain Barrier Breakdown in Alzheimer's Disease: Mechanisms and Targeted Strategies.International journal of molecular sciences · 2023Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.American journal of human genetics · 2023Article
- The Pathology of Primary Familial Brain Calcification: Implications for Treatment.Neuroscience bulletin · 2023Review
- Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.Frontiers in pediatrics · 2023Article
- Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review.Neuro-ophthalmology (Aeolus Press) · 2023Article
- Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses.Investigative ophthalmology & visual science · 2022Article
- Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in theFrontiers in genetics · 2022Article
- Blood-Brain Barrier: From Physiology to Disease and Back.Physiological reviews · 2019Review
- Blood-brain barrier breakdown in Alzheimer disease and other neurodegenerative disorders.Nature reviews. Neurology · 2018Review
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Authors and funding
10 authors at 5 institutions in 5 countries.
Funding
Abstract
We have recently shown that the hemorrhagic destruction of the brain, subependymal, calcification, and congenital cataracts is caused by biallelic mutations in the gene encoding junctional adhesion molecule 3 (JAM3) protein. Affected members from three new families underwent detailed clinical examination including imaging of the brain. Affected individuals presented with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. All patients had a catastrophic clinical course resulting in death. Sequencing the coding exons of JAM3 revealed three novel homozygous mutations: c.2T>G (p.M1R), c.346G>A (p.E116K), and c.656G>A (p.C219Y). The p.M1R mutation affects the start codon and therefore is predicted to impair protein synthesis. Cellular studies showed that the p.C219Y mutation resulted in a significant retention of the mutated protein in the endoplasmic reticulum, suggesting a trafficking defect. The p.E116K mutant traffics normally to the plasma membrane as the wild-type and may have lost its function due to the lack of interaction with an interacting partner. Our data further support the importance of JAM3 in the development and function of the vascular system and the brain.
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