The utility of molecular genetic techniques in craniosynostosis cases associated with intellectual disability

Abstract

Molecular genetic testing in craniosynostosis leads to the detection of the mutations in the genes encoding fibroblast growth factor receptors (FGFR), providing information about the etiology of the genetic disorder. Muenke syndrome is produced by p.Pro250Arg mutation in FGFR3 gene with evidence of variable expressivity, representing 8% of the syndromic craniosynostoses.

Keywords

• craniosynostosis
• fgfr3
• pro250arg mutation
• mlpa analysis
• sanger sequencing