ArticleAmerican journal of human genetics2014
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 1 of them a synthesis that pooled it.
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Who cites it
99 citing papers in PubMed, 1 synthesis or guideline pooled it, 188 citations in OpenAlex.
- Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.Heart (British Cardiac Society) · 2022Pooled it
- Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.Global medical genetics · 2026Article
- Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.International journal of molecular sciences · 2025Review
- Mouse scalp development requires Rac1 and SRF for the maintenance of mechanoresponsive mesenchyme.Development (Cambridge, England) · 2025Article
- Genetics of Congenital Heart Disease.Clinics in perinatology · 2025Review
- Molecular Mechanism of Notch Signaling and Macrophages in Deep Vein Thrombosis: A Comprehensive Review.Cell biochemistry and biophysics · 2025Review
- A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.BMC medical genomics · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Communication between endothelial cells and osteoblasts in regulation of bone homeostasis: Notch players.Stem cell research & therapy · 2025Review
- Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.Human genomics · 2025Article
- Case Report: A novelFrontiers in pediatrics · 2025Article
- Deficiency ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.The Journal of investigative dermatology · 2024Review
- Article
- Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.European journal of human genetics : EJHG · 2024Article
- BMPR2 Loss Activates AKT by Disrupting DLL4/NOTCH1 and PPARγ Signaling in Pulmonary Arterial Hypertension.International journal of molecular sciences · 2024Article
- Adams-Oliver syndrome: About a case.Clinical case reports · 2024Article
- NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.International journal of molecular sciences · 2024Review
- Disruption of DLL4/NOTCH1 Causes Dysregulated PPARγ/AKT Signaling in Pulmonary Arterial Hypertension.bioRxiv : the preprint server for biology · 2024Article
- Hdac1 and Hdac2 positively regulate Notch1 gain-of-function pathogenic signaling in committed osteoblasts of male mice.Birth defects research · 2024Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 6 institutions in 4 countries.
Funding
Abstract
Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular eukaryotes. Despite the involvement of Notch in many key developmental systems, human mutations in Notch signaling components have mainly been described in disorders with vascular and bone effects. Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. Using whole-genome sequencing in a cohort of 11 families lacking mutations in the four genes with known roles in AOS pathology (ARHGAP31, RBPJ, DOCK6, and EOGT), we found a heterozygous de novo 85 kb deletion spanning the NOTCH1 5' region and three coding variants (c.1285T>C [p.Cys429Arg], c.4487G>A [p.Cys1496Tyr], and c.5965G>A [p.Asp1989Asn]), two of which are de novo, in four unrelated probands. In a fifth family, we identified a heterozygous canonical splice-site variant (c.743-1 G>T) in an affected father and daughter. These variants were not present in 5,077 in-house control genomes or in public databases. In keeping with the prominent developmental role described for Notch1 in mouse vasculature, we observed cardiac and multiple vascular defects in four of the five families. We propose that the limb and scalp defects might also be due to a vasculopathy in NOTCH1-related AOS. Our results suggest that mutations in NOTCH1 are the most common cause of AOS and add to a growing list of human diseases that have a vascular and/or bony component and are caused by alterations in the Notch signaling pathway.
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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.