ArticleAmerican journal of human genetics2008
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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Who cites it
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 149 citations in OpenAlex.
- Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.European journal of human genetics : EJHG · 2013Pooled it
- M-cadherin regulates the formation of adherens junctions and secondary myofibers during fetal myogenesis to determine adult myofiber number and muscle mass.Stem cell reports · 2026Article
- Kirrel3 homophilic adhesion function is required for male-directed aggression and vomeronasal acuity to urine chemosignals.Frontiers in cellular neuroscience · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- A Novel Mutation of CADHERIN (Clinical case reports · 2025Article
- Inhibitory Neurons Marked by the Connectivity Molecule Kirrel3 Regulate Memory Precision.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Inhibitory neurons marked by the connectivity molecule Kirrel3 regulate memory precision.bioRxiv : the preprint server for biology · 2025Article
- Cell-type-specific roles of FOXP1 in the excitatory neuronal lineage during early neocortical murine development.Cell reports · 2025Article
- Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes.American journal of human genetics · 2025Article
- Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.Frontiers in neurology · 2025Review
- Epigenetics of Genes Preferentially Expressed in Dissimilar Cell Populations: Myoblasts and Cerebellum.Epigenomes · 2024Article
- Apically localized PANX1 impacts neuroepithelial expansion in human cerebral organoids.Cell death discovery · 2024Article
- The association between circulating CD34+CD133+ endothelial progenitor cells and reduced risk of Alzheimer's disease in the Framingham Heart Study.Exploration of medicine · 2024Article
- Article
- KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.Italian journal of pediatrics · 2023Article
- Infection of the murine placenta by Listeria monocytogenes induces sex-specific responses in the fetal brain.Pediatric research · 2023Article
- Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using transcriptome profiling.BMC genomics · 2023Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- Maternal Methamphetamine Exposure Influences Behavioral Sensitization and Nucleus Accumbens DNA Methylation in Subsequent Generation.Frontiers in pharmacology · 2022Article
- Molecular and structural basis of olfactory sensory neuron axon coalescence by Kirrel receptors.Cell reports · 2021Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Cell-adhesion molecules play critical roles in brain development, as well as maintaining synaptic structure, function, and plasticity. Here we have found the disruption of two genes encoding putative cell-adhesion molecules, CDH15 (cadherin superfamily) and KIRREL3 (immunoglobulin superfamily), by a chromosomal translocation t(11;16) in a female patient with intellectual disability (ID). We screened coding regions of these two genes in a cohort of patients with ID and controls and identified four nonsynonymous CDH15 variants and three nonsynonymous KIRREL3 variants that appear rare and unique to ID. These variations altered highly conserved residues and were absent in more than 600 unrelated patients with ID and 800 control individuals. Furthermore, in vivo expression studies showed that three of the CDH15 variations adversely altered its ability to mediate cell-cell adhesion. We also show that in neuronal cells, human KIRREL3 colocalizes and interacts with the synaptic scaffolding protein, CASK, recently implicated in X-linked brain malformation and ID. Taken together, our data suggest that alterations in CDH15 and KIRREL3, either alone or in combination with other factors, could play a role in phenotypic expression of ID in some patients.
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Registered trials
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