Novel IL11RA Compound Heterozygous Variants in a Chinese Pediatric Patient With Pancraniosynostosis
Lingzhao Min1, Qi Liu, Xiaoqiang Wang
1Department of Pediatric Neurosurgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Insights
Craniosynostosis, a condition of premature skull suture fusion, can cause head shape abnormalities. This case highlights novel IL11RA gene variants in pancraniosynostosis, suggesting broader genetic testing for this condition.
Area of Science:
- Genetics
- Pediatric Neurosurgery
- Molecular Biology
Background:
- Craniosynostosis involves premature fusion of cranial sutures, leading to abnormal head shape and potential neurological issues.
- Pancraniosynostosis affects all sutures, requiring complex surgical management.
- Recurrent or progressive symptoms may necessitate further investigation and intervention.
Purpose of the Study:
- To report a case of pancraniosynostosis with novel IL11RA gene variants.
- To expand the understanding of the genetic basis of craniosynostosis.
- To emphasize the importance of IL11RA in genetic diagnostics for pancraniosynostosis.
Main Methods:
- Case report of a 4-year-old boy with pancraniosynostosis and recurrent forehead protrusion.
- Whole exome sequencing (WES) to identify genetic variants.
- Surgical intervention for secondary cranial suture reconstruction.
Main Results:
- Identified two novel compound heterozygous variants in the IL11RA gene (c.673C>T and c.728C>G).
- Both variants were classified as variants of uncertain significance.
- Successful secondary cranial suture reconstruction with favorable 6-month outcomes.
Conclusions:
- IL11RA variants are associated with pancraniosynostosis, even without typical syndromic features.
- IL11RA should be considered in genetic testing panels for pancraniosynostosis.
- This case expands the known mutational spectrum of IL11RA-related craniosynostosis.
Abstract:
Craniosynostosis, marked by premature fusion of the cranial sutures, leads to abnormal head shapes and possible neurological complications. This report describes a 4-year-and-2-month-old boy diagnosed with pancraniosynostosis who presented with progressive forehead protrusion 11 months after initial cranial suture reconstruction. Whole exome sequencing identified 2 novel compound heterozygous variants in the IL11RA gene (c.673C>T, P. Arg225Trp inherited from the mother and c.728C>G, P. Pro243Arg inherited from the father), both classified as variants of uncertain significance. The patient underwent successful secondary cranial suture reconstruction with favorable 6-month outcomes. These findings expand the mutational spectrum of IL11RA-associated craniosynostosis and highlight the importance of including IL11RA in genetic testing panels for pancraniosynostosis, even in the absence of classic syndromic features.
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