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A novel mutation in FGFR2
Author(s) -
Goos Jacqueline A. C.,
van den Ouweland Ans M. W.,
Swagemakers Sigrid M. A.,
Verkerk Annemieke J. M. H.,
Hoogeboom A. Jeannette M.,
van Veelen MarieLise C.,
Mathijssen Irene M. J.,
van der Spek Peter J.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36827
Subject(s) - craniosynostosis , exon , genetics , mutation , intron , fibroblast growth factor receptor 2 , point mutation , gene , crouzon syndrome , biology , coding region , fibroblast growth factor , receptor
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.