ArticleAmerican journal of medical genetics. Part A2020
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Research on the role and mechanism of FAT4 in the development and progression of tumor and non-tumor diseases.Discover oncology · 2026Review
- Clinical,medRxiv : the preprint server for health sciences · 2026Article
- Regulation of Hippo signaling and planar cell polarity via distinct regions of the Fat intracellular domain.Development (Cambridge, England) · 2025Article
- Meningeal lymphatic drainage: novel insights into central nervous system disease.Signal transduction and targeted therapy · 2025Review
- BiallelicJournal of medical genetics · 2023Article
- Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report.Asian biomedicine : research, reviews and news · 2022Article
- Functional characterization of FBXL7 as a novel player in human cancers.Cell death discovery · 2022Review
- Role of Transcriptional and Epigenetic Regulation in Lymphatic Endothelial Cell Development.Cells · 2022Review
- De novo missense variants in FBXO11 alter its protein expression and subcellular localization.Human molecular genetics · 2022Article
- 7-Ethoxyrosmanol alleviates hyperglycemia-induced vascular endothelial dysfunction by regulating FBXL7 expression.Journal of bioenergetics and biomembranes · 2021Article
- Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.Journal of medical genetics · 2020Review
- The Lymphatic Vasculature in the 21Cell · 2020Review
- E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.Frontiers in physiology · 2020Review
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial dysmorphism, and variable intellectual disability. Known disease genes include CCBE1, FAT4, and ADAMTS3. In a patient with clinically diagnosed Hennekam syndrome but without mutations or copy-number changes in the three known disease genes, we identified a homozygous single-exon deletion affecting FBXL7. Specifically, exon 3, which encodes the F-box domain and several leucine-rich repeats of FBXL7, is eliminated. Our analyses of databases representing >100,000 control individuals failed to identify biallelic loss-of-function variants in FBXL7. Published studies in Drosophila indicate Fbxl7 interacts with Fat, of which human FAT4 is an ortholog, and mutation of either gene yields similar morphological consequences. These data suggest that FBXL7 may be the fourth gene for Hennekam syndrome, acting via a shared pathway with FAT4.
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