Molecular diagnosis of non-syndromic craniosynostosis: new challenges for real clinical practice

Craniosynostoses (CS) are a congenital malformation caused by absence or premature closure of skull sutures. This leads to deformation and impaired growth of skull. Traditionally, syndromic and non-syndromic forms are distinguished. For a long time, it was believed that molecular genetic mechanisms are significant exclusively for syndromic CS. However, clear data on involvement of somatic and germinal mutations in pathogenesis of non-syndromic forms were accumulated in recent years. Currently, there are no unified clinical guidelines defining the strategy for molecular genetic diagnosis for non-syndromic CS. This creates difficulties for neurosurgeons when choosing the optimal diagnostic method. The purpose of the article was to analyze modern ideas about effectiveness of various methods of molecular diagnosis of non-syndromic CS and to evaluate their role in routine clinical practice of neurosurgical departments.