SynthesisChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024
The role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.
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Who cites it
4 citing papers in PubMed.
- Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.BMC medical genomics · 2026Article
- Lumbar hemivertebra associated with coronal craniosynostosis due to TCF12 mutation: an expansion of the axial skeletal phenotype.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- TCF12-related bicoronal craniosynostosis complicated by a large middle fossa arachnoid cyst and developmental regression: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Functional analyses of splice site variants in TCF12.Human genomics · 2025Article
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7 authors.
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Abstract
Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s). In this study, we, therefore, systematically reviewed the rapidly growing knowledge of TCF12-related coronal craniosynostosis, clearly illustrating its high degree of genotype and phenotype variability. With the two novel cases presented, at least 113 cases of TCF12-related coronal craniosynostosis have currently been reported. By pooling data from several prospectively collected undifferentiated craniosynostosis cohorts (n
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