ArticleAmerican journal of human genetics2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 126 citations in OpenAlex.
- Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Human genetics · 2015Trial
- Cross-talk between glycosylation pathways: Mechanistic insights and implications for human diseases.Molecular metabolism · 2026Review
- Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4.Global medical genetics · 2026Article
- Crystal structure of epidermal growth factor domain-specificPNAS nexus · 2026Article
- Identification of a migrasome-related lncRNA signature and its prognostic and immunological role in bladder cancer.Frontiers in immunology · 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
- DifferentialProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Aplasia Cutis Congenita Pathomechanisms Reveal Key Regulators of Skin and Skin Appendage Morphogenesis.The Journal of investigative dermatology · 2024Review
- Protein glycosylation in cardiovascular health and disease.Nature reviews. Cardiology · 2024Review
- Novel insights into the roles of migrasome in cancer.Discover oncology · 2024Review
- EOGT enables residual Notch signaling in mouse intestinal cells lacking POFUT1.Scientific reports · 2023Article
- Emerging field:Frontiers in molecular biosciences · 2023Review
- Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literatureBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.American journal of medical genetics. Part A · 2022Article
- Significant Roles of NotchMolecules (Basel, Switzerland) · 2022Review
- Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.BMC medical genomics · 2022Article
- Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.International journal of ophthalmology · 2022Article
- Role of Notch2 pathway in mature B cell malignancies.Frontiers in oncology · 2022Review
- Murine Model of Cardiac Defects Observed in Adams-Oliver Syndrome Driven byStem cells and development · 2021Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or -recessive disorder characterized primarily by aplasia cutis congenita and terminal transverse limb defects. Recently, we demonstrated that homozygous mutations in DOCK6 cause an autosomal-recessive form of AOS. In this study, we sought to determine the contribution of DOCK6 mutations to the etiology of AOS in several consanguineous families. In two of the five families studied, we identified two homozygous truncating mutations (a splice-site mutation and a frameshift duplication). DOCK6 sequencing revealed no mutation in the remaining three families, consistent with their autozygosity mapping and linkage-analysis results, which revealed a single candidate locus in 3p14.1 on three different haplotype backgrounds in the three families. Indeed, exome sequencing in one family revealed one missense mutation in EOGT (C3orf64), and subsequent targeted sequencing of this gene revealed a homozygous missense mutation and a homozygous frameshift deletion mutation in the other two families. EOGT encodes EGF-domain-specific O-linked N-acetylglucosamine (O-GlcNAc) transferase, which is involved in the O-GlcNAcylation (attachment of O-GlcNAc to serine and threonine residues) of a subset of extracellular EGF-domain-containing proteins. It has a documented role in epithelial-cell-matrix interactions in Drosophila, in which deficiency of its ortholog causes wing blistering. Our findings highlight a developmental role of O-GlcNAcylation in humans and expand the genetic heterogeneity of autosomal-recessive AOS.
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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.