ArticleScientific reports2023
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- Spatiotemporal single-cell atlas of suture stem cell dynamics in craniosynostosis.Stem cell research & therapy · 2026Article
- From a single C-mannose to multiple C-mannosyltransferases.The Journal of biological chemistry · 2026Review
- The biology of interleukin-6 family cytokines is regulated by glycosylation.The Biochemical journal · 2025Review
- Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.Molecular genetics & genomic medicine · 2025Article
- High expression of the eukaryotic initiation factors eIF4a and eIF4e in retinoblastoma.Contemporary oncology (Poznan, Poland) · 2025Article
- Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.BMC pediatrics · 2024Article
- Downregulation of the keratins CK13 and CK14 does not significantly affect cell viability of human urinary bladder carcinoma cells.Contemporary oncology (Poznan, Poland) · 2024Article
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Authors and funding
16 authors at 9 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development. In this study, we report on two siblings with craniosynostosis and a homozygous missense pathogenic variant within the IL11RA gene (c.919 T > C; p.W307R). The patients present with craniosynostosis, exophthalmos, delayed tooth eruption, mild platybasia, and a basilar invagination. The p.W307R variant is located within the arginine-tryptophan-zipper within the D3 domain of the IL-11R, a structural element known to be important for the stability of the cytokine receptor. Expression of IL-11R-W307R in cells shows impaired maturation of the IL-11R, no transport to the cell surface and intracellular retention. Accordingly, cells stably expressing IL-11R-W307R do not respond when stimulated with IL-11, arguing for a loss-of-function mutation. In summary, the IL-11R-W307R variant, reported here for the first time to our knowledge, is most likely the causative variant underlying craniosynostosis in these patients.
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