Novel IL11RA Compound Heterozygous Variants in a Chinese Pediatric Patient With Pancraniosynostosis.

Authors

Lingzhao Min, Qi Liu, Xiaoqiang Wang

Published in

The Journal of craniofacial surgery. Aug 19, 2026. Epub Aug 19, 2026.

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.

PMID:
42627986
Bibliographic data and abstract were imported from PubMed on 22 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.