| Description: |
FGFR1 CRANIOSYNOSTOSIS (MILD PFEIFFER SYNDROME). Craniosynostosis due to Pfeiffer syndrome can be diagnosed at the molecular level by detection of disease-causing mutations in the FGFR2 or the FGFR1 genes. Because the vast majority of mutations identified in FGFR2 to date are located in exons 7 and 9, diagnostic testing is performed on these two exons. In FGFR1, the exon that encompasses recurring mutation Pro252Arg is sequenced. The craniosynostosis sequencing assay of FGFR1 includes gene amplification via the polymerase chain reaction (PCR), and direct DNA sequencing with two individual sequencing primers that cover one exon in both the forward and reverse direction. |
