ArticleAmerican journal of human genetics2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- Analysis of haploinsufficiency in human neural progenitor cells: insights into early molecular effects of autism-related genes.Cell death & disease · 2026Article
- Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Plasma proteomics identifies proteins and pathways associated with incident migraine in 50,668 adults.The journal of headache and pain · 2026Article
- Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome.NPJ genomic medicine · 2026Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Assessing the clinical application value of SNP-array in fetal central nervous system malformations.Human genomics · 2025Article
- Defective Neural Stem and Progenitor Cell Proliferation in Neurodevelopmental Disorders.Journal of developmental biology · 2025Review
- Association rule mining of clinical and biomarker data in neuroendocrine tumors: A prospective study on disease progression.Journal of neuroendocrinology · 2025Article
- Functional Divergence ofInternational journal of molecular sciences · 2025Article
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Oscillatory DeltaC Expression in Neural Progenitors Primes the Prototype of Forebrain Development.Molecular neurobiology · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.American journal of human genetics · 2025Article
- UtilizingJournal of developmental biology · 2025Review
- Role of the Notch ligand DLL4 in the immune response of children with Mycoplasma pneumoniae pneumonia.Revista do Instituto de Medicina Tropical de Sao Paulo · 2025Article
- Article
- Deficiency ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Temporal and Spatial Variations in ZebrafishInternational journal of molecular sciences · 2024Article
- Comprehensive exosomal microRNA profile and construction of competing endogenous RNA network in autism spectrum disorder: A pilot study.Biomolecules & biomedicine · 2024Article
- Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT.Patterns (New York, N.Y.) · 2024Article
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38 authors.
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Abstract
Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. We performed exome sequencing in individuals with neurodevelopmental disorders. The cohort was identified using known Matchmaker Exchange nodes such as GeneMatcher. This method identified 15 individuals from 12 unrelated families with heterozygous pathogenic DLL1 variants (nonsense, missense, splice site, and one whole gene deletion). The most common features in our cohort were intellectual disability, autism spectrum disorder, seizures, variable brain malformations, muscular hypotonia, and scoliosis. We did not identify an obvious genotype-phenotype correlation. Analysis of one splice site variant showed an in-frame insertion of 12 bp. In conclusion, heterozygous DLL1 pathogenic variants cause a variable neurodevelopmental phenotype and multi-systemic features. The clinical and molecular data support haploinsufficiency as a mechanism for the pathogenesis of this DLL1-related disorder and affirm the importance of DLL1 in human brain development.
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