Extended Phenotype of Bilateral Coronal Craniosynostosis Due to Novel TCF12 Mutation

Abstract

Craniosynostosis is the premature fusion of the cranial sutures, a heterogeneous disorder with a prevalence of ~1 in 2200. The etiology of craniosynostosis is largely unknown. However, several recent genomic discoveries have elucidated the genetic basis for nonsyndromic craniosynostosis, particularly unicoronal or bicoronal craniosynostosis. Coronal craniosynostosis is the second most common type after sagittal craniosynostosis. Here, the authors present a case of bilateral coronal craniosynostosis caused by a novel pathogenic variant of TCF12. The authors performed whole exome sequencing and found a heterozygous NM_207037.2;intron16:c.1468-G >T mutation in TCF12. The patient's parents did not carry this mutation. This report describes a novel feature associated with bilateral coronal craniosynostosis is described. Further reports and genetic research may deepen the authors' understanding of the genetic and clinical background of this disorder.

Keywords: Coronal suture synostosis; TCF12; craniosynostosis; novel variant.