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| Item Type: | Article |
|---|---|
| Title: | The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans |
| Creators Name: | Ahmad, I. and Lokau, J. and Kespohl, B. and Malik, N.A. and Baig, S.M. and Hartig, R. and Behme, D. and Schwab, R. and Altmüller, J. and Jameel, M. and Mucha, S. and Thiele, H. and Tariq, M. and Nürnberg, P. and Erdmann, J. and Garbers, C. |
| 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. |
| Keywords: | Arginine, Brain, Craniosynostoses, Head, Humans, Skull |
| Source: | Scientific Reports |
| ISSN: | 2045-2322 |
| Publisher: | Nature Publishing Group |
| Volume: | 13 |
| Number: | 1 |
| Page Range: | 13479 |
| Date: | 18 August 2023 |
| Official Publication: | https://doi.org/10.1038/s41598-023-39466-y |
| PubMed: | View item in PubMed |
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