Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report
Issued Date
2022-04-01
Resource Type
ISSN
02567040
eISSN
14330350
Scopus ID
2-s2.0-85110811255
Pubmed ID
34247275
Journal Title
Child's Nervous System
Volume
38
Issue
4
Start Page
843
End Page
846
Rights Holder(s)
SCOPUS
Bibliographic Citation
Child's Nervous System Vol.38 No.4 (2022) , 843-846
Suggested Citation
Chaisrisawadisuk S. Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report. Child's Nervous System Vol.38 No.4 (2022) , 843-846. 846. doi:10.1007/s00381-021-05285-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/87349
Title
Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report
Author(s)
Author's Affiliation
Other Contributor(s)
Abstract
Craniosynostosis is a condition of premature fusion of the cranial sutures. Multi-suture craniosynostosis has been found to be associated with a number of syndromes and underlying gene mutations. Tumour necrosis factor receptor-associated factors (TRAFs) are a family of adaptor proteins interacting with cell surface receptors or other signalling molecules. TRAF7 is one of the factors involved in multiple biologic processes, including ubiquitination, myogenesis and toll-like receptor signalling. Here, we report a child who presented with multi-suture craniosynostosis and had the uncommon c.1570C>T (p.Arg524Trp) variant of TRAF7.