ArticleAmerican journal of human genetics2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 59 citations in OpenAlex.
- A novel mutation inJCEM case reports · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- A novel fibronectin-binding peptide reveals dynamic intermediate structures during matrix assembly.Scientific reports · 2025Article
- Extracellular ERp57 promotes fibronectin fibril formation during matrix assembly of articular cartilage.iScience · 2025Article
- Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.Life science alliance · 2025Article
- Fibronectin matrix assembly at a glance.Journal of cell science · 2025Review
- Proteomic insights into the extracellular matrix: a focus on proteoforms and their implications in health and disease.Expert review of proteomics · 2024Review
- Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia.Cellular and molecular life sciences : CMLS · 2024Article
- Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.The American journal of pathology · 2024Article
- Identifying potential biomarkers for the diagnosis and treatment of IgA nephropathy based on bioinformatics analysis.BMC medical genomics · 2023Article
- Growth plate extracellular matrix defects and short stature in children.Annals of pediatric endocrinology & metabolism · 2022Article
- Polymorphisms of fibronectin-1 (rs3796123; rs1968510; rs10202709; rs6725958; and rs35343655) are not associated with bronchopulmonary dysplasia in preterm infants.Molecular and cellular biochemistry · 2022Article
- Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.The journal of obstetrics and gynaecology research · 2022Article
- Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.Frontiers in immunology · 2022Article
- High-impactScience advances · 2021Article
- Genetic Investigation of Inverse Psoriasis.Life (Basel, Switzerland) · 2021Article
- New gene discoveries in skeletal diseases with short stature.Endocrine connections · 2021Review
- Role of Fibronectin-1 polymorphism genes with the pathogenesis of intraventricular hemorrhage in preterm infants.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- IncreasedJournal of medical genetics · 2020Article
- Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.Science immunology · 2019Article
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Authors and funding
34 authors at 17 institutions in 8 countries.
Funding
Abstract
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues. Furthermore, using matching tools and the SkelDys emailing list, we identified other individuals with de novo FN1 variants and a similar phenotype. The severe scoliosis in most individuals and rare developmental coxa vara distinguish individuals with FN1 mutations from those with classical Sutcliffe-type SMD. To study functional consequences of these FN1 mutations on the protein level, we introduced three disease-associated missense variants (p.Cys87Phe [c.260G>T], p.Tyr240Asp [c.718T>G], and p.Cys260Gly [c.778T>G]) into a recombinant secreted N-terminal 70 kDa fragment (rF70K) and the full-length fibronectin (rFN). The wild-type rF70K and rFN were secreted into the culture medium, whereas all mutant proteins were either not secreted or secreted at significantly lower amounts. Immunofluorescence analysis demonstrated increased intracellular retention of the mutant proteins. In summary, FN1 mutations that cause defective fibronectin secretion are found in SMD, and we thus provide additional evidence for a critical function of fibronectin in cartilage and bone.
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