Molecular genetics craniosynostosis

Simeon Boyd, N. Yaneva, R. Kaneva, E. Simeonov

Research output: Contribution to journalReview articlepeer-review


Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting 1 in 2,500 live born. In most cases, it occurs as an isolated congenital anomaly i.e. non-syndromic craniosynostosis (NCS) while in 25-30% of cases it is a part of a genetic syndrome. The genetic causes of NCS remain largely unknown and the role of environmental factors is yet to be confirmed. Recent studies have reported mutations in specific genes (transcription factor 12 (TCF12), Ets2 repressor factor (ERF), TWIST family transcription factor (TWIST), aristaless-like homeobox 4 (ALX4), runt-related transcription factor (RUNX2), FRAS1 related extracellular matrix 1 (FREM1)) within interconnected signaling pathways in NCS cases. The aim of this review is to provide a detailed and comprehensive update on the genetics and environmental factors associated with NCS, in the light of the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging and treatment aspects of NCS is also provided. The contribution of the International Craniosynostosis Consortium to CS studies is also emphasized.

Original languageEnglish (US)
Pages (from-to)7-12
Number of pages6
Issue number4
StatePublished - 2015
Externally publishedYes


  • Craniofacial malformation
  • Craniosynostosis
  • Gene mutations
  • Skull sutures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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