A Novel Mutation in FGFR2

Jacqueline Goos; Ans van den Ouweland; Sigrid Swagemakers; Annemieke Verkerk; Jeannette Hoogeboom; M.L.C. van Veelen - Vincent; Irene Mathijssen; Peter van der Spek

doi:10.1002/ajmg.a.36827

A Novel Mutation in FGFR2

Jacqueline Goos, Ans van den Ouweland, Sigrid Swagemakers, Annemieke Verkerk, Jeannette Hoogeboom, M.L.C. van Veelen - Vincent, Irene Mathijssen, Peter van der Spek

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

Abstract

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 language	Undefined/Unknown
Pages (from-to)	123-127
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	167A
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.36827
Publication status	Published - 2015

Research programs

EMC MGC-02-02-01
EMC MGC-02-96-01
EMC MM-01-39-09-A
EMC NIHES-01-50-01-A

Access to Document

10.1002/ajmg.a.36827

http://hdl.handle.net/1765/84726

Cite this

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title = "A Novel Mutation in FGFR2",

abstract = "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.",

author = "Jacqueline Goos and {van den Ouweland}, Ans and Sigrid Swagemakers and Annemieke Verkerk and Jeannette Hoogeboom and {van Veelen - Vincent}, M.L.C. and Irene Mathijssen and {van der Spek}, Peter",

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AU - Goos, Jacqueline

AU - van den Ouweland, Ans

AU - Swagemakers, Sigrid

AU - Verkerk, Annemieke

AU - Hoogeboom, Jeannette

AU - van Veelen - Vincent, M.L.C.

AU - Mathijssen, Irene

AU - van der Spek, Peter

PY - 2015

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AB - 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.

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