A Novel Mutation in FGFR2

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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. (C) 2014 Wiley Periodicals, Inc.
Original languageUndefined/Unknown
Pages (from-to)123-127
Number of pages5
JournalAmerican Journal of Medical Genetics Part A
Issue number1
Publication statusPublished - 2015

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