Extracellular Matrix Proteins in Syndromic Malformations
Summary
Extracellular matrix (ECM) proteins form a dynamic scaffold that governs tissue architecture, cell adhesion and intercellular signalling during embryogenesis and beyond. In several rare syndromic malformations, including Fraser syndrome and related blebbed phenotypes, mutations in genes encoding ECM components such as FRAS1, FREM1 and FREM2 disrupt epithelial–mesenchymal interactions and basement membrane integrity. These disturbances lead to a characteristic constellation of anomalies—cryptophthalmos, cutaneous syndactyly, renal agenesis and respiratory tract malformations—by impairing the formation of anchoring cords and fibrils that normally stabilise developing tissues. Research has also revealed that variations in interacting partners such as GATA4 and SLIT3 can modulate the severity and spectrum of these defects. A growing body of work emphasises the global importance of understanding ECM protein networks not only for elucidating fundamental developmental mechanisms but also for informing early diagnosis, multidisciplinary care and targeted therapeutic strategies in resource‐limited settings.
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Extracellular Matrix Proteins in Syndromic Malformations publication trend
The graph below shows the total number of articles in extracellular matrix proteins in syndromic malformations across all publications each year (not limited to Nature Index journals).
Technical terms
Extracellular matrix (ECM): A network of proteins and polysaccharides secreted by cells, providing structural support and biochemical signals.
Basement membrane: A specialised ECM sheet underlying epithelia and endothelia, essential for tissue compartmentalisation and adhesion.
Cryptophthalmos: A congenital condition in which the eyelids fail to separate, often associated with syndromic malformations.
Syndactyly: Fusion of digits resulting from aberrant tissue separation during limb development.
Epithelial–mesenchymal interactions: Reciprocal signalling between epithelial and mesenchymal cells that directs organogenesis and morphogenesis.
References
- The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin. International Journal of Molecular Sciences (2023).
- Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. American Journal of Medical Genetics Part A (2020).
- Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3. PLOS ONE (2013).
- Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report. BMC Pediatrics (2019).
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