A novel mutation in FGFR2
Copyright policy )A novel mutation in FGFR2
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. © 2014 Wiley Periodicals, Inc.
- Erasmus University Medical Center Netherlands
- Erasmus University Rotterdam Netherlands
EMC NIHES-01-50-01-A, Adult, Male, Infant, Newborn, Facies, Infant, Exons, Sequence Analysis, DNA, Introns, Child, Preschool, Mutation, EMC MGC-02-02-01, EMC MM-01-39-09-A, Humans, Female, Receptor, Fibroblast Growth Factor, Type 2, Child, EMC MGC-02-96-01
EMC NIHES-01-50-01-A, Adult, Male, Infant, Newborn, Facies, Infant, Exons, Sequence Analysis, DNA, Introns, Child, Preschool, Mutation, EMC MGC-02-02-01, EMC MM-01-39-09-A, Humans, Female, Receptor, Fibroblast Growth Factor, Type 2, Child, EMC MGC-02-96-01
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