Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 (FGFR2), c.812G>T, p.(Gly271Val) or c.1851G>C, p.(Leu617Phe). Furthermore, we describe a mutation that has been identified just recently, c.812G>T, (p.Gly271Val) or c.1851G>C, (p.Leu617Phe). In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis.

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Keywords Case reports, Craniosynostosis, FGFR2, Sequence analysis
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Journal American Journal of Medical Genetics. Part A
Goos, J.A.C, van den Ouweland, A.M.W, Swagemakers, S.M.A, Verkerk, A, Hoogeboom, A.J.M, van Veelen-Vincent, M.L.C, … van der Spek, P.J. (2015). A novel mutation in FGFR2. American Journal of Medical Genetics. Part A, 167(1), 123–127. doi:10.1002/ajmg.a.36827